Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus ( endometriosis ).
Defects of the mitochondrial electron-transfer flavoprotein pathway or glutaric aciduria type II Some forms of respiratory chain deficiency Of note, brain vascular lesions appear to be a specific neuropathologic feature of EE, not seen in other forms of ethylmalonic aciduria or in disorders caused by primary respiratory chain defects such as Leigh syndrome [Giordano et al 2012, Tiranti & Zeviani 2013].
Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system. Neurological signs and symptoms include delayed development and the loss of previously acquired skills (developmental regression), weak muscle tone (hypotonia), seizures, and abnormal movements. The body's network of blood vessels (the vascular system) is also affected. Children with this disorder often develop rashes of tiny red spots (petechiae) caused by bleeding under the skin and blue discoloration in the hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic diarrhea is another common feature of ethylmalonic encephalopathy.
Ethylmalonic encephalopathy (EE) causes damage to the brain, nerves, and blood vessels. Symptoms are present at birth and tend to get worse over time. These include low muscle tone, spasms of the arms and legs, seizures, and developmental delay. Blood vessel damage causes tiny red spots under the skin ( petechiae ) and blue discoloration in the hands and feet due to reduced blood flow ( acrocyanosis ). Chronic bloody diarrhea and difficulty swallowing leads to poor growth. EE is considered a lethal condition, and most people die in childhood.
Clinical Features Burlina et al. (1991) first described ethylmalonic encephalopathy as a syndrome characterized by developmental delay, acrocyanosis, petechiae, and chronic diarrhea.
Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities. Epidemiology Less than 40 cases have been described in the literature so far. Clinical description The disease manifests at birth or in the first few months of life. Spastic tetraplegia may be present. In addition to increased excretion of EMA, methylsuccinic acid and C4-C6-acylglycines (isobutyryl-, isovaleryl-, 2-methylbutyryl-, hexanoylglycine) may also be found in small, but elevated, amounts in the urine. Blood levels of C4-C6-carnitines (butyryl-, isobutyryl-, isovaleryl- and hexanoylcarnitine) may be elevated.
They are frequently a consequence of mechanical artificial heart valves and hemolytic uremic syndrome , thrombotic thrombocytopenic purpura , among other causes. ... Contents 1 Appearance 2 Pathophysiology 3 Schistocyte count 4 Conditions 4.1 Disseminated intravascular coagulation 4.2 Thrombotic thrombocytopenic purpura 4.3 Hemolytic-uremic syndrome 4.4 Malfunctioning cardiac valves 5 References 6 External links Appearance [ edit ] Schistocytes are fragmented red blood cells that can take on different shapes. ... The standard for a schistocyte count is a microscopic examination of a peripheral blood smear . [4] Conditions [ edit ] Schistocytes on the peripheral blood smear is a characteristic feature of microangiopathic hemolytic anemia (MAHA). [5] The causes of MAHA can be disseminated intravascular coagulation , thrombotic thrombocytopenic purpura , hemolytic-uremic syndrome , HELLP syndrome , malfunctioning cardiac valves etc. ... In TTP, a schistocyte count between 3–10% is common, but >1% is suggestive of the disease. [7] Hemolytic-uremic syndrome [ edit ] Hemolytic-uremic syndrome or HUS is hemolytic anaemia , acute kidney failure (uremia), and thrombocytopenia.
But wrist pain also can result from long-term problems, such as repetitive stress, arthritis and carpal tunnel syndrome. Because so many factors can lead to wrist pain, diagnosing the exact cause can be difficult. ... For example, osteoarthritis pain often is described as being similar to a dull toothache. Carpal tunnel syndrome usually causes a pins-and-needles feeling. ... Other diseases and conditions Carpal tunnel syndrome. Carpal tunnel syndrome develops when there's increased pressure on the median nerve as it passes through the carpal tunnel, a passageway in the palm side of the wrist. ... Nerve tests Your health care provider might order an electromyogram if carpal tunnel syndrome is suspected. This test measures the tiny electrical discharges produced in the muscles. ... A surgeon may need to connect the fragments of bone together with metal hardware. Carpal tunnel syndrome. If your symptoms are severe, you may need to have the ligament that forms the roof of the tunnel cut open to relieve the pressure on the nerve.
Likewise, a pinched nerve in your wrist can lead to pain and numbness in your hand and fingers (carpal tunnel syndrome). With rest and other conservative treatments, most people recover from a pinched nerve within a few days or weeks. ... Women are more likely to develop carpal tunnel syndrome, possibly due to having smaller carpal tunnels. ... People with thyroid disease are at higher risk of carpal tunnel syndrome. Other risk factors include: Diabetes. ... It's helpful for diagnosing nerve compression syndromes, such as carpal tunnel syndrome. ... Depending on the location of the pinched nerve, you may need a splint, collar or brace to immobilize the area. If you have carpal tunnel syndrome, your doctor may recommend wearing a splint during the day as well as at night because wrists flex and extend frequently during sleep.
The patient was born at 35 weeks gestation with Potter syndrome, hypoplastic lungs, and severe hypotension. ... Renal Tubular Dysgenesis with Choanal Atresia and Athelia Hisama et al. (1998) reported a lethal syndrome in 3 brothers which was characterized particularly by renal tubular dysgenesis and absent nipples (athelia). ... One had a marker chromosome which appeared to be mainly Y heterochromatin and was probably unrelated to the syndrome because it was absent in the other 2 patients. ... Horvath and Armstrong (2007) described a female infant, born to a nonconsanguineous couple who had 2 previous miscarriages, who appeared to share a syndrome with the 3 brothers reported by Hisama et al. (1998). ... Horvath and Armstrong (2007) considered the 4 salient features of this apparent syndrome to be choanal atresia/stenosis, athelia, renal tubular dysfunction, and family and/or personal history of neck cysts or branchial clefts.
These include heart problems, congenital hemochromatosis, and a complication that can occur in twin pregnancies called twin-to-twin transfusion syndrome. Learn more about the genes associated with Renal tubular dysgenesis ACE AGT AGTR1 REN Inheritance Pattern Renal tubular dysgenesis is inherited in an autosomal recessive pattern , which means both copies of the affected gene in each cell have mutations.
It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.
A number sign (#) is used with this entry because this syndromic form of optic atrophy can be caused by heterozygous mutation in the OPA1 gene (605290) on chromosome 3q29. ... See also optic atrophy-1 (OPA1; 165500), which is an allelic disorder without extraocular neurologic complications. Description Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. ... In 23 members of 5 generations of a family, Treft et al. (1984) described a syndrome of early-onset optic atrophy and deafness. ... Many of the features suggested the Kearns-Sayre syndrome (530000), but the involvement of the son of the propositus, the only instance of male-to-male transmission, appeared to rule out a mitochondrial causation. ... Marelli et al. (2011) reported 2 adult brothers who presented with optic atrophy resulting in progressive visual loss in the first decade, followed by progressive spastic pyramidal syndrome and mild cerebellar ataxia resulting in gait difficulties in the second decade.
There is some phenotypic overlap with Moebius syndrome (see, e.g., 157900), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016). ... Webb et al. (2012) noted that because both boys had partially accommodative esotropia with high hyperopia and full eye movements, they did not meet the criteria for Moebius syndrome. Their parents and a brother were unaffected, and there was no family history of strabismus or facial weakness. ... All had full eye motility, excluding a clinical diagnosis of Moebius syndrome. The patients had dysmorphic facial features, including masked facies, midface retrusion, upturned nose, smooth philtrum, lagophthalmos, epicanthal folds, flat nasal bridge, and variable cone-shaped incisors. ... Webb et al. (2012) sequenced HOXB1 in 175 additional probands, some with a diagnosis of Moebius syndrome (157900) and others with variable combinations of facial weakness, hearing loss, and complex or common strabismus, and identified homozygosity for the same R207C mutation in an adult brother and sister with congenital bilateral facial weakness, who had previously been diagnosed with Moebius syndrome and were also of conservative German American ('Pennsylvania Dutch') background. ... Webb et al. (2012) stated that although all 4 affected individuals had congenital facial paresis, none had limited abduction of either eye, and thus did not meet the diagnostic criteria for Moebius syndrome. The R207C mutation was found to occur on a haplotype shared by the 2 German American families that was infrequent in the European population (0.787%), supporting a founder mutation.
Up to 50% (varies in studies) of cases are associated with chromosome 22q 11 deletions ( DiGeorge Syndrome ). The neural crest , specifically a population known as the cardiac neural crest, directly contributes to the aorticopulmonary septum . [3] [4] Microablation of the cardiac neural crest in developing chick embryos and genetic anomalies affecting this population of cells in rodents results in persistent truncus arteriosus. [5] [6] [7] Numerous perturbations affecting the cardiac neural crest have been associated with persistent truncus arteriosus, some of which include growth factors ( fibroblast growth factor 8 and bone morphogenetic protein ), transcription factors ( T-box , Pax , Nkx2-5 , GATA-6 , and Forkhead ), and gap junction proteins ( Connexin ). The cardiac neural crest also contributes the smooth muscle of the great arteries . [ citation needed ] Pathophysiology [ edit ] Anatomical changes associated with this disorder includes: [ citation needed ] single artery arising from the two ventricles which gives rise to both the aortic and pulmonary vessels abnormal truncal valve right sided aortic arch in about 30% of cases (not shown) large ventricular septal defect pulmonary hypertension complete mixing occurring at level of the great vessel right-to-left shunting of blood Diagnosis [ edit ] Cyanosis presents at birth Heart failure may occur within weeks Systolic ejection murmur is heard at the left sternal border Widened pulse pressure Bounding arterial pulses Loud second heart sound Biventricular hypertrophy Cardiomegaly Increased pulmonary vascularity Hypocalcemia (if associated with DiGeorge syndrome ) Classification [ edit ] The most well-known classification was the fourfold system developed by Collett and Edwards in 1949. [8] Collett/Edwards Types I, II, and III are distinguished by the branching pattern of the pulmonary arteries: [9] [10] Type I: truncus -> one pulmonary artery -> two lateral pulmonary arteries Type II: truncus -> two posterior/posterolateral pulmonary arteries Type III: truncus -> two lateral pulmonary arteries The "Type IV" proposed in 1949 is no longer considered a form of PTA by most modern sources. [10] Another well-known classification was defined by Van Praaghs in 1965. [10] [11] Treatment [ edit ] Treatment is with neonatal surgical repair, with the objective of restoring a normal pattern of blood flow. [12] The surgery is open heart, and the patient will be placed on cardiopulmonary bypass to allow the surgeon to work on a still heart. ... "SIR 2005 Annual Meeting Film Panel Case: hemoptysis and bronchial artery embolization in an adult with uncorrected truncus arteriosus and Eisenmenger syndrome". Journal of Vascular and Interventional Radiology . 16 (5): 635–8. doi : 10.1097/01.RVI.0000161372.87971.84 . ... Truncus arteriosus Classification D ICD - 10 : Q20.0 ICD - 9-CM : 745.0 OMIM : 217095 MeSH : D014339 DiseasesDB : 32081 External resources MedlinePlus : 001111 eMedicine : ped/2316 v t e Congenital heart defects Heart septal defect Aortopulmonary septal defect Double outlet right ventricle Taussig–Bing syndrome Transposition of the great vessels dextro levo Persistent truncus arteriosus Aortopulmonary window Atrial septal defect Sinus venosus atrial septal defect Lutembacher's syndrome Ventricular septal defect Tetralogy of Fallot Atrioventricular septal defect Ostium primum Consequences Cardiac shunt Cyanotic heart disease Eisenmenger syndrome Valvular heart disease Right pulmonary valves stenosis insufficiency absence tricuspid valves stenosis atresia Ebstein's anomaly Left aortic valves stenosis insufficiency bicuspid mitral valves stenosis regurgitation Other Underdeveloped heart chambers right left Uhl anomaly Dextrocardia Levocardia Cor triatriatum Crisscross heart Brugada syndrome Coronary artery anomaly Anomalous aortic origin of a coronary artery Ventricular inversion
An extra or irregular chromosome increases the risk of truncus arteriosus. Examples are DiGeorge syndrome, also called 22q11.2 deletion syndrome, and velocardiofacial syndrome. ... But those with the condition will almost certainly have heart failure and develop a complication called Eisenmenger syndrome. This syndrome is caused by permanent lung vessel damage. ... Ask your health care provider which sports and types of exercise are safe for you or your child. People with Eisenmenger syndrome should avoid strenuous physical activity. ... Pregnancy is considered very high risk for those with Eisenmenger syndrome and is not recommended. Coping and support Caring for a baby with a serious heart problem, such as truncus arteriosus, can be challenging.
Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve ( i.e. truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance. Epidemiology Prevalence ranges from 0.03 to 0.056 per 1,000 live births.
Microvascular angina Specialty Cardiology Cardiac syndrome X is a historic term for microvascular angina , angina (chest pain) with signs associated with decreased blood flow to heart tissue but with normal coronary arteries . ... "Endothelial cell dysfunction in women with cardiac syndrome X and MTHFR C677T mutation". Isr. ... "Cardiac syndrome X. Diagnosis, pathogenesis and management". ... "Frequency of systemic microvascular dysfunction in syndrome X and in variant angina". Am J Cardiol . 78 (2): 182–6. doi : 10.1016/S0002-9149(96)90393-8 . ... Kaski JC, Russo G (2000). "Cardiac syndrome X: an overview". Hosp Pract . 35 (2): 75–6, 79–82, 85–8 passim. doi : 10.3810/hp.2000.02.183 .
Some infections are easily treatable and can be cured, some are more difficult, and some are non curable such as AIDS and herpes . [2] Congenital abnormalities [ edit ] Examples of congenital abnormalities of the reproductive system include: Kallmann syndrome - Genetic disorder causing decreased functioning of the sex hormone-producing glands caused by a deficiency of one or both testes from the scrotum. Androgen insensitivity syndrome - A genetic disorder causing people who are genetically male (i.e. ... The collaborative on health and the environment. v t e Male diseases of the pelvis and genitals Internal Testicular Orchitis Hydrocele testis Testicular cancer Testicular torsion Male infertility Aspermia Asthenozoospermia Azoospermia Hyperspermia Hypospermia Oligospermia Necrospermia Teratospermia Epididymis Epididymitis Spermatocele Hematocele Prostate Prostatitis Acute prostatitis Chronic bacterial prostatitis Chronic prostatitis/chronic pelvic pain syndrome Asymptomatic inflammatory prostatitis Benign prostatic hyperplasia Prostate cancer Seminal vesicle Seminal vesiculitis External Penis Balanoposthitis / Balanitis Balanitis plasmacellularis Pseudoepitheliomatous keratotic and micaceous balanitis Phimosis Paraphimosis Priapism Sexual dysfunction Erectile dysfunction Peyronie's disease Penile cancer Penile fracture Balanitis xerotica obliterans Other Hematospermia Retrograde ejaculation Postorgasmic illness syndrome v t e Female diseases of the pelvis and genitals Internal Adnexa Ovary Endometriosis of ovary Female infertility Anovulation Poor ovarian reserve Mittelschmerz Oophoritis Ovarian apoplexy Ovarian cyst Corpus luteum cyst Follicular cyst of ovary Theca lutein cyst Ovarian hyperstimulation syndrome Ovarian torsion Fallopian tube Female infertility Fallopian tube obstruction Hematosalpinx Hydrosalpinx Salpingitis Uterus Endometrium Asherman's syndrome Dysfunctional uterine bleeding Endometrial hyperplasia Endometrial polyp Endometriosis Endometritis Menstruation Flow Amenorrhoea Hypomenorrhea Oligomenorrhea Pain Dysmenorrhea PMS Timing Menometrorrhagia Menorrhagia Metrorrhagia Female infertility Recurrent miscarriage Myometrium Adenomyosis Parametrium Parametritis Cervix Cervical dysplasia Cervical incompetence Cervical polyp Cervicitis Female infertility Cervical stenosis Nabothian cyst General Hematometra / Pyometra Retroverted uterus Vagina Hematocolpos / Hydrocolpos Leukorrhea / Vaginal discharge Vaginitis Atrophic vaginitis Bacterial vaginosis Candidal vulvovaginitis Hydrocolpos Sexual dysfunction Dyspareunia Hypoactive sexual desire disorder Sexual arousal disorder Vaginismus Urogenital fistulas Ureterovaginal Vesicovaginal Obstetric fistula Rectovaginal fistula Prolapse Cystocele Enterocele Rectocele Sigmoidocele Urethrocele Vaginal bleeding Postcoital bleeding Other / general Pelvic congestion syndrome Pelvic inflammatory disease External Vulva Bartholin's cyst Kraurosis vulvae Vestibular papillomatosis Vulvitis Vulvodynia Clitoral hood or clitoris Persistent genital arousal disorder v t e Reproductive health Rights Compulsory sterilization Contraceptive security Genital integrity Circumcision controversies Genital modification and mutilation Intersex Education Genetic counseling Pre-conception counseling Sex education Planning Assisted reproductive technology Birth control Childfree / Childlessness Parenting Adoption Childbirth Foster care Safe sex Health Men's Women's Vulvovaginal Research Self-report sexual risk behaviors Pregnancy Abortion Birth spacing Maternal health Obstetrics Options counseling Pregnancy from rape Pregnant patients' rights Prenatal care Teenage pregnancy Preteen pregnancy Unintended pregnancy Medicine Andrology Genitourinary medicine Gynaecology Obstetrics and gynaecology Reproductive endocrinology and infertility Sexual medicine Disorder Disorders of sex development Infertility Reproductive system disease Sexual dysfunction Sexually transmitted infection Clinic By country China India Iran Ireland Pakistan Philippines Singapore United Kingdom Teen United States Teen pregnancy Birth control History Birth control movement in the United States History of condoms Social hygiene movement Timeline of reproductive rights legislation Policy One-child policy Two-child policy Financial Baby bonus Bachelor tax Child benefit Tax on childlessness v t e Women's health Reproductive & Sexual health Reproductive health Reproductive tract External female genitalia (vulva) Clitoris Clitoral hood Labia minora Labia majora Vagina Cervix Uterus Fallopian tube Ovary Reproductive system disease Maternal health Pregnancy Unintended pregnancy Gravidity and parity Obstetrics Antenatal care Adolescent pregnancy Complications of pregnancy Hyperemesis gravidarum Ectopic pregnancy Miscarriage Obstetrical bleeding Gestational diabetes Hypertension Preeclampsia Eclampsia Childbirth Midwifery Preterm birth Multiple births Oxytocin Obstructed labor Cesarian section Retained placenta Obstetrical fistulae Vesicovaginal fistula Rectovaginal fistula Episiotomy husband stitch Postpartum care Postpartum confinement Maternal deaths Perinatal mortality Stillbirths Abortion Mother-to-child transmission Sterilization Compulsory sterilization Breastfeeding and mental health Reproductive life plan Infertility Childlessness Assisted reproductive technology In vitro fertilization Parenting Adoption Fostering Contraception & Family planning Unsafe sex Intrauterine devices Oral contraceptives Condoms Contraceptive prevalence Contraceptive security Planned parenthood Fertility awareness Menstruation Culture and menstruation Feminine hygiene Menarche Menstrual cycle Menstrual aids Cloth menstrual pad Menstrual cup Tampon Sanitary pad Dysmenorrhea Menorrhagia Amenorrhoea Menopause Hormone replacement therapy Sexual health Sexually transmitted infections HIV Human papilloma virus HPV vaccine Pelvic inflammatory disease Female genital mutilation Clitoridectomy Infibulation Breast ironing Child marriage Forced marriage Leblouh Polygamy Sexual intercourse Orgasm Dyspareunia Sex differences Sex education Puberty Breast health Gynaecological disorders Vaginitis Non-reproductive health Violence against women Abuse during childbirth Domestic violence Intimate partner violence Misogyny Sexual harassment Sexual assault Rape Femicide Gender discrimination Non-communicable diseases Cancer Lung cancer Breast cancer Uterine cancer Endometrial cancer Cervical cancer Papanicolaou test Ovarian cancer Cardiovascular disease Dementia Alzheimer's disease Bone health Osteoporosis Hip fracture Anaemia Mental health Anxiety Depression Major depressive disorder Urinary tract Urethra Urinary tract infection Urinary incontinence Sociocultural factors Poverty Disadvantaged Gender equality Healthcare inequality Gender disparities in health Social determinants of health Reproductive justice Women's empowerment Politics, Research & Advocacy United Nations The Convention on the Elimination of All Forms of Discrimination against Women Declaration on the elimination of violence against women International Day of the Girl Child Commission on the Status of Women UN Women United States Office of Research on Women's Health Women's Health Initiative International Center for Research on Women Nurses' Health Study Black Women's Health Study Cartwright Inquiry Society for Women's Health Research Women's health by country Women's health in China Women's health in Ethiopia Women's health in India Family planning Birth control in the United States Category Commons WikiProject
It can also be described as empty nose syndrome. Contents 1 Signs and symptoms 2 Etiology 2.1 Secondary atrophic rhinitis 2.2 Unilateral atrophic rhinitis 3 Pathology 4 Diagnosis 5 Treatment 6 History 7 See also 8 References 9 External links Signs and symptoms [ edit ] It is most commonly seen in females. ... Atrophic rhinitis can also result from long-standing purulent sinusitis or radiotherapy of the nose, or as a complication of surgery of the turbinates . [3] The United Kingdom National Health Service has stated that "Most cases of atrophic rhinitis in the UK occur when the turbinates are damaged or removed during surgery". [4] Some authors refer to as Atrophic rhinitis secondary to sinus surgery as the empty nose syndrome . [3] Unilateral atrophic rhinitis [ edit ] Extreme deviation of nasal septum may be accompanied by atrophic rhinitis on the wider side. ... In the Edwin Smith Papyrus (1700 BC) it was prescribed a treatment based on wine and breast milk to cure this disease. [3] The ancient Greek and Indian civilizations were aware of atrophic rhinitis. [7] See also [ edit ] Empty nose syndrome References [ edit ] ^ Dutt SN, Kameswaran M (November 2005). ... External links [ edit ] Classification D ICD - 10 : J31.0 ICD - 9-CM : 472.0 MeSH : D012222 DiseasesDB : 30798 SNOMED CT : 195769008 External resources MedlinePlus : 001627 v t e Diseases of the respiratory system Upper RT (including URTIs , common cold ) Head sinuses Sinusitis nose Rhinitis Vasomotor rhinitis Atrophic rhinitis Hay fever Nasal polyp Rhinorrhea nasal septum Nasal septum deviation Nasal septum perforation Nasal septal hematoma tonsil Tonsillitis Adenoid hypertrophy Peritonsillar abscess Neck pharynx Pharyngitis Strep throat Laryngopharyngeal reflux (LPR) Retropharyngeal abscess larynx Croup Laryngomalacia Laryngeal cyst Laryngitis Laryngopharyngeal reflux (LPR) Laryngospasm vocal cords Laryngopharyngeal reflux (LPR) Vocal fold nodule Vocal fold paresis Vocal cord dysfunction epiglottis Epiglottitis trachea Tracheitis Laryngotracheal stenosis Lower RT / lung disease (including LRTIs ) Bronchial / obstructive acute Acute bronchitis chronic COPD Chronic bronchitis Acute exacerbation of COPD ) Asthma ( Status asthmaticus Aspirin-induced Exercise-induced Bronchiectasis Cystic fibrosis unspecified Bronchitis Bronchiolitis Bronchiolitis obliterans Diffuse panbronchiolitis Interstitial / restrictive ( fibrosis ) External agents/ occupational lung disease Pneumoconiosis Aluminosis Asbestosis Baritosis Bauxite fibrosis Berylliosis Caplan's syndrome Chalicosis Coalworker's pneumoconiosis Siderosis Silicosis Talcosis Byssinosis Hypersensitivity pneumonitis Bagassosis Bird fancier's lung Farmer's lung Lycoperdonosis Other ARDS Combined pulmonary fibrosis and emphysema Pulmonary edema Löffler's syndrome / Eosinophilic pneumonia Respiratory hypersensitivity Allergic bronchopulmonary aspergillosis Hamman-Rich syndrome Idiopathic pulmonary fibrosis Sarcoidosis Vaping-associated pulmonary injury Obstructive / Restrictive Pneumonia / pneumonitis By pathogen Viral Bacterial Pneumococcal Klebsiella Atypical bacterial Mycoplasma Legionnaires' disease Chlamydiae Fungal Pneumocystis Parasitic noninfectious Chemical / Mendelson's syndrome Aspiration / Lipid By vector/route Community-acquired Healthcare-associated Hospital-acquired By distribution Broncho- Lobar IIP UIP DIP BOOP-COP NSIP RB Other Atelectasis circulatory Pulmonary hypertension Pulmonary embolism Lung abscess Pleural cavity / mediastinum Pleural disease Pleuritis/pleurisy Pneumothorax / Hemopneumothorax Pleural effusion Hemothorax Hydrothorax Chylothorax Empyema/pyothorax Malignant Fibrothorax Mediastinal disease Mediastinitis Mediastinal emphysema Other/general Respiratory failure Influenza Common cold SARS Coronavirus disease 2019 Idiopathic pulmonary haemosiderosis Pulmonary alveolar proteinosis
There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008). Sabinas brittle hair syndrome (211390) is another form of nonphotosensitive TTD. ... Among the Amish, Allen (1971) and subsequently Jackson et al. (1974) delineated a syndrome characterized by short stature, intellectual impairment, brittle hair, and decreased fertility. ... Baden et al. (1976) referred to the disorder as the BIDS syndrome. Although they did not define the acronym, it presumably derives from brittle hair, intellectual impairment, decreased fertility and short stature. ... Their discussion of the various syndromes associated with TTD indicated the complexity of nosology in this area. ... In 10 other cases of nonphotosensitive TTD, including 2 cases of Sabinas syndrome (211390), no mutations were found in the 2 exons of the C7ORF11 gene and 5-prime upstream region.
Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body. ... Different mutations in the same gene can be associated with different types of hearing loss, and some genes are associated with both syndromic and nonsyndromic forms. In many affected families, the factors contributing to hearing loss have not been identified. ... Mutations in some of the genes associated with nonsyndromic hearing loss can also cause syndromic forms of hearing loss, such as Usher syndrome ( CDH23 and MYO7A , among others), Pendred syndrome ( SLC26A4 ), Wolfram syndrome ( WFS1 ), and Stickler syndrome ( COL11A2 ).
A number sign (#) is used with this entry because aminoglycoside-induced deafness is associated with mutations in at least 2 mitochondrial-encoded genes, including MTRNR1 (561000) and MTCO1 (516030). Description The mechanism of ototoxicity of aminoglycosides is thought to be interference with the production of ATP in the mitochondria of hair cells in the cochlea (Akiyoshoi et al., 1976). The aminoglycosides include kanamycin, gentamicin, tobramycin, and neomycin in addition to streptomycin. Inheritance Familial occurrence of streptomycin hearing loss, often with seemingly modest dosage of the antibiotic, was reported by Johnsonbaugh et al. (1974), Podvinec and Stefanovic (1966), Prazic and Salaj (1975), and Tsuiki and Murai (1971). The cases of Johnsonbaugh et al. (1974) involved mother and son. Viljoen et al. (1983) described 8 persons with streptomycin ototoxicity in a large kindred of mixed ancestry from a remote rural area of South Africa.