��28��-��- – FindZebra Search

Advanced

Neurogenic Bowel Dysfunction Wikipedia

Archived from the original on 2018-09-29 . Retrieved 2018-09-28 . ^ Emmanuel, A (2010-02-09). "Review of the efficacy and safety of transanal irrigation for neurogenic bowel dysfunction" .
Atypical Trigeminal Neuralgia Wikipedia

Archived from the original on 2013-01-28. ^ Vadalouca A, Siafaka I, Argyra E, Vrachnou E, Moka E (November 2006).
Cramp Wikipedia

PMID 7431559 . Archived from the original on 28 December 2010 . Retrieved 26 October 2011 . ^ Schwellnus MP, Nicol J, Laubscher R, Noakes TD (2004).

COL4A1, DMD, ALB, RYR1, ORAI1, SLCO1B1, SNURF, BEST1, VHL, STIM1, SNRPN, SMN2, SMN1, CXCL5, MUC2, ATP2A1, MPZ, LMNA, LHB, STMN1, HSPB1, CXCL2, CAV3, SLC25A20, BCHE, ANO5
- Muscle Cramp Mayo_clinic
  
  Overview A muscle cramp is a sudden, unexpected tightening of one or more muscles. Sometimes called a charley horse, a muscle cramp can be very painful. Exercising or working hard, especially in heat, can lead to muscle cramps. Some medicines and illnesses also might cause muscle cramps. Muscle cramps aren't usually harmful. Self-care measures can treat most muscle cramps. Symptoms Muscle cramps occur mostly in leg muscles, most often in the calf.
Mirror-Touch Synesthesia Wikipedia

"Somatosensory Activations During the Observation of Touch and a Case of Vision-Touch Synaesthesia" . Brain . 128 (28): 1571–1583. doi : 10.1093/brain/awh500 .
Opisthorchiasis Wikipedia

The Southeast Asian Journal of Tropical Medicine and Public Health . 28 Suppl 1: 65–72. PMID 9656352 . . ^ "Opisthorchiasis - Treatment Information" .

CYP2A6
Female Genital Mutilation In Sierra Leone Wikipedia

Female genital mutilation in Sierra Leone (also known as female genital cutting) is the common practice of removing all or part of the female's genitalia for cultural and religious initiation purposes, or as a custom to prepare them for marriage. Sierra Leone is one of 28 countries in Africa where female genital mutilation (FGM) is known to be practiced. [1] Contents 1 Cultural reasons 2 Prevalence 3 Health effects 4 Community response 5 See also 6 References Cultural reasons [ edit ] FGM is regularly performed in Sierra Leone. [2] The reason that FGM is common in Sierra Leone is because FGM is practiced in a ‘secret society’ called the bondo secret society.
Angiostrongyliasis Wikipedia

Further reading [ edit ] "Parasites - Angiostrongyliasis (also known as Angiostrongylus Infection)" . CDC . 2015-12-28 . Retrieved 2017-04-04 . "DPDx - Angiostrongyliasis" .

LGALS2, SIRT1
- Angiostrongyliasis Orphanet
  
  A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.
Coronary Vasospasm Wikipedia

"Ischaemia with no obstructive coronary arteries" . Netherlands Heart Journal . 28 (Suppl 1): 66–72. doi : 10.1007/s12471-020-01451-9 .

NOS3, PON1, ARHGAP9, PLCD1, ALDH2, ABCC9, SGCD, DLL1, BCAR1, MED23, DLK1, SLC14A2, PLA2G7, XDH, CXCL12, OPA1, CAD, MMP3, IL6, HTR2A, HTR1B, UTS2R, EDN1, DECR1, ACE, CYBA, CTNND1, CSE1L, CAV1, TMX2-CTNND1
Hyperacusis Wikipedia

His story was told in BuzzFeed . [27] Musician Stephin Merritt has monaural hyperacusis in his left ear, which influences the instrumentation of his band, The Magnetic Fields , leads him to wear earplugs during performances and to cover his affected ear during audience applause. [ citation needed ] Musician Laura Ballance of Superchunk has hyperacusis and no longer tours with the band. [ citation needed ] American politician, activist, and film producer Michael Huffington has mild hyperacusis and underwent sound therapy after finding that running tap water caused ear pain. [28] Russian communist revolutionary, politician, and political theorist Vladimir Lenin was reported seriously ill by the latter half of 1921, having hyperacusis and symptoms such as regular headache and insomnia. [29] Musician Chris Singleton had hyperacusis, but made a full recovery. [30] His story was told in The Independent . [31] Musician Peter Silberman of The Antlers had hyperacusis and tinnitus which put his musical career on hold, but was quoted saying it died down to a 'manageable level' [32] He has now resumed his musical career.

CREBBP, EDNRA, TBL2, GTF2IRD1, BAZ1B, CLIP2, TNF, SLC1A3, RFC2, OTX2, LIMK1, GTF2I, ESR1, EP300, ELN, MLXIPL, ERBB2, SCN11A
- Phonophobia Wikipedia
  
  This article is about the fear of loud sounds. For the aversion to specific sounds, such as eating, coughing, or alarms, see Misophonia . For the fear of making or taking phone calls, see Telephone phobia . Phonophobia Other names Ligyrophobia, sonophobia, acousticophobia [1] Specialty Psychiatry , neurology Phonophobia , also called ligyrophobia or sonophobia , is a fear of or aversion to loud sounds (for example fireworks)—a type of specific phobia . [2] It is a very rare phobia which is often the symptom of hyperacusis . Sonophobia can refer to the hypersensitivity of a patient to sound and can be part of the diagnosis of a migraine . Occasionally it is called acousticophobia . [1] The term phonophobia comes from Greek φωνή - phōnē , "sound" [3] and φόβος - phobos , "fear". [4] Ligyrophobics may be fearful of devices that can suddenly emit loud sounds, such as computer speakers or fire alarms. When operating a device such as a home theater system, computer, television, or CD player, they may wish to have the volume turned down all the way before doing anything that would cause the speakers to emit sound, so that once the command to produce sound is given, the user can raise the volume of the speakers to a comfortable listening level.
Chronic Progressive External Ophthalmoplegia Wikipedia

"Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions". Nature Genetics . 28 (3): 211–212. doi : 10.1038/90034 .

POLG, TRNL1, TRNS1, TRNN, TRNL2, SOD2, SOD1, IL1A, IL1B, TWNK, SLC25A4, POLG2, RRM2B, TK2, TYMP, TOP3A, C1QBP, DGUOK, APTX, RNASEH1, TRNK, ATP8, ATXN3, MGME1, TRNT, DNA2, PRPF6, CHMP1B, OPA1, TRNI, AFG3L2, RPTOR, FGF21, MAPKAP1, PRIMPOL, COX2, SPG7, SCO2, TYR, TFAM, CYTB, PTGS2, POLRMT, NPTX2, GJB1, TNPO1, TRNM, TRNE, RNR2, MTCO2P12
- Chronic Progressive External Ophthalmoplegia Gard
  
  Chronic progressive external ophthalmoplegia (CPEO) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in early adulthood and most commonly include weakness or paralysis of the muscles that move the eye (ophthalmoplegia) and drooping of the eyelids (ptosis). Some affected individuals also have general weakness of the skeletal muscles (myopathy), which may be especially noticeable during exercise. Muscle weakness may also cause difficulty swallowing (dysphagia). CPEO can be caused by mutations in any of several genes, which may be located in mitochondrial DNA or nuclear DNA. It has different inheritance patterns depending on the gene involved in the affected individual.
- Mitochondrial Dna-Related Progressive External Ophthalmoplegia Orphanet
  
  An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.
Thoracic Aorta Injury Wikipedia

If the patient does develop a more severe injury including a full thickness injury through the media layer then the patient should be treated with surgery. [8] Outcomes [ edit ] Thoracic aortic injury is the 2nd leading cause of death involving both blunt trauma. 80% of patients that have a thoracic aortic injury will die immediately. [4] Of the patients that do make it to be evaluated only 50% will survive 24 hours. [1] Of the patients that do survive the first 24 hours 14% develop paraplegia. [6] Epidemiology [ edit ] Thoracic aortic injury is most commonly caused by a penetrating trauma in up to 90% of cases. [10] Of these cases around 28% are confined to the thoracic portion of the aorta including the ascending aorta, aorta arch, and the descending aorta. [10] Of the thoracic aortic injuries the ligament arteriosum is the most common location followed by the portion of the aorta after the origin of the left subclavian artery. [10] The most common mechanism leading to thoracic aortic injury is a motor vehicle collision.
Periapical Cyst Wikipedia

Journal of Indian Society of Pedodontics and Preventive Dentistry . 28 (3): 203–8. doi : 10.4103/0970-4388.73795 .

TNF, TGFB1, MMP9, TP53, FN1, IL6, TIMP1, CXCL8, IFNG, HSPB2, HSPB1, HSPB3, BCL2, PTGS2, MMP1, CD68, MMP2, PTCH1, IL1B, SPP1, SMO, TIMP2, VEGFA, VDR, NME1, TP63, TNFRSF11A, CD83, CD163, PDPN, B3GAT1, HSPA14, IL17D, MYDGF, IL27, LGALS7B, TNFRSF11B, MME, COX2, HSPD1, CASP3, CD8A, CD14, CDH1, EDA, FGF2, FHIT, GLI1, HIF1A, HSPA4, HSPG2, MMP13, ICAM1, IL1A, IL10, IL17A, KRT13, LGALS1, LGALS3, LGALS7, MDM2, BTF3P11, MTCO2P12
Neurasthenia Wikipedia

. ^ "World War One executions" , History Learning Site . Retrieved November 28, 2013. ^ Evangard B; Schacterie R.S.; Komaroff A.

KRT7, TAL1, SCLY
Bacteriuria Wikipedia

Infectious Disease Clinics of North America . 28 (1): 91–104. doi : 10.1016/j.idc.2013.09.006 .

AMBP, CRP, PPIB, TNMD, PACC1, ATG16L1, GNLY, SLC9A6, TLR4, LCN2, KLK3, CXCL8, HOXC5, GZMB, EMP1, CYP1A1, CYLD, MFT2
Frontal Lobe Disorder Wikipedia

External links [ edit ] Classification D ICD - 10 : F07 External resources eMedicine : article/1135866 Scholia has a topic profile for Frontal lobe disorder . v t e Anatomy of the cerebral cortex of the human brain Frontal lobe Superolateral Prefrontal Superior frontal gyrus 4 6 8 Middle frontal gyrus 9 10 46 Inferior frontal gyrus : 11 47 - Pars orbitalis Broca's area 44 - Pars opercularis 45 - Pars triangularis Superior frontal sulcus Inferior frontal sulcus Precentral Precentral gyrus Precentral sulcus Medial/inferior Prefrontal Superior frontal gyrus 4 6 Medial frontal gyrus 8 9 Paraterminal gyrus / Paraolfactory area 12 Straight gyrus 11 Orbital gyri / Orbitofrontal cortex 10 11 12 Ventromedial prefrontal cortex 10 Subcallosal area 25 Olfactory sulcus Orbital sulcus Precentral Paracentral lobule 4 Paracentral sulcus Both Primary motor cortex 4 Premotor cortex 6 Supplementary motor area 6 Supplementary eye field 6 Frontal eye fields 8 Parietal lobe Superolateral Superior parietal lobule 5 7 Inferior parietal lobule 40 - Supramarginal gyrus 39 - Angular gyrus Parietal operculum 43 Intraparietal sulcus Medial/inferior Paracentral lobule 1 2 3 5 Precuneus 7 Marginal sulcus Both Postcentral gyrus / Primary somatosensory cortex 3, 1 and 2 Secondary somatosensory cortex 5 Posterior parietal cortex 7 Occipital lobe Superolateral Occipital pole of cerebrum Lateral occipital gyrus 18 19 Lunate sulcus Transverse occipital sulcus Medial/inferior Visual cortex 17 Cuneus Lingual gyrus Calcarine sulcus Temporal lobe Superolateral Transverse temporal gyrus / Auditory cortex 41 and 42 Superior temporal gyrus 38 22 / Wernicke's area Middle temporal gyrus 21 Superior temporal sulcus Medial/inferior Fusiform gyrus 37 Medial temporal lobe 27 28 34 35 36 Inferior temporal gyrus 20 Inferior temporal sulcus Interlobar sulci/fissures Superolateral Central (frontal+parietal) Lateral (frontal+parietal+temporal) Parieto-occipital Preoccipital notch Medial/inferior Longitudinal fissure Cingulate (frontal+cingulate) Collateral (temporal+occipital) Callosal sulcus Limbic lobe Parahippocampal gyrus anterior Entorhinal cortex Perirhinal cortex Postrhinal cortex Posterior parahippocampal gyrus Prepyriform area Cingulate cortex / gyrus Subgenual area 25 Anterior cingulate 24 32 33 Posterior cingulate 23 31 Isthmus of cingulate gyrus : Retrosplenial cortex 26 29 30 Hippocampal formation Hippocampal sulcus Fimbria of hippocampus Dentate gyrus Rhinal sulcus Other Indusium griseum Uncus Amygdala Insular cortex Insular cortex General Operculum Poles of cerebral hemispheres Some categorizations are approximations, and some Brodmann areas span gyri. v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline
Technophobia Wikipedia

Archived from the original on 2010-05-28 . Retrieved 2010-06-02 . ^ Goodyear, Anne Collins (2008).
Noonan Syndrome With Multiple Lentigines Wikipedia

"Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive)". J. Pediatr. Hematol. Oncol . 28 (3): 123–5. doi : 10.1097/01.mph.0000199590.21797.0b .

PTPN11, RAF1, BRAF, MAP2K1, SOS1, PTEN, KRAS, HRAS, SHOC2, EPHA2, SOS2, RRAS, RIT1, LZTR1, RASA2, RASA1, NRAS, PPP1R13L, MRAS, MAP2K2, PPP1CB, A2ML1, AKT1, MAPK3, MTOR, NF1, PIK3CG, TSC1, CDC73, TESC, SASH1, ZHX2, DSP, EGF, EPHB2, FBN1, MAPK1, FXN, SLC12A3, GAB1, IRS1, NFATC4, PIK3CA, PIK3CB, PIK3CD, MAP2K7, ACP1
- Noonan Syndrome With Multiple Lentigines Gene_reviews
  
  Summary Clinical characteristics. Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features, including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (HCM) (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth retardation resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25 th percentile for age.
- Leopard Syndrome 1 Omim
  
  A number sign (#) is used with this entry because LEOPARD syndrome-1 (LPRD1) is caused by heterozygous mutation in the PTPN11 gene (176876) on chromosome 12q24. Mutation in the PTPN11 gene also causes Noonan syndrome-1 (NS1; 163950), a disorder with features overlapping those of LEOPARD syndrome. Description LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD Syndrome LEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (LPRD2; 611554), caused by mutation in the RAF1 gene (164760), and LEOPARD syndrome-3 (LPRD3; 613707), caused by mutation in the BRAF gene (164757).
- Leopard Syndrome 2 Omim
  
  A number sign (#) is used with this entry because LEOPARD syndrome-2 (LPRD2) is caused by heterozygous mutation in the RAF1 gene (164760) on chromosome 3p25. For a phenotypic description and a discussion of genetic heterogeneity of LEOPARD syndrome, see 151100. Clinical Features Pandit et al. (2007) reported 2 women with LEOPARD syndrome-2. Both patients had short stature, hypertrophic cardiomyopathy, lentigines and cafe au lait spots, craniofacial anomlies including dolichocephaly, downslanting palpebral fissures, hypertelorism, thick lips, low-set ears with thickened helix, and prominent chin, short webbed nedk, cubitus valgus, and delayed puberty. One patient had mitral valve anomaly and the other had pulmonary valve stenosis.
- Noonan Syndrome With Multiple Lentigines Orphanet
  
  A rare multisystem genetic disorder characterized by cutaneous lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features. Epidemiology Exact prevalence and incidence rates for Noonan syndrome with multiple lentigines (NSML) are not known. About 300 cases have been described to date. A slight male predominance has been reported. Clinical description Patients with NSML have a characteristic facial appearance including a broad forehead, hypertelorism, ptosis, down-slanting palpebral fissures, a high-arched palate, and low-set posteriorly rotated ears. Pectus deformity is common. Multiple lentigines, presenting as flat, black-brown macules, are located mainly on the face, neck, and upper trunk, sparing the mucosa, and constitute a hallmark feature of the syndrome.
- Leopard Syndrome Gard
  
  LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the features of the syndrome: (L)entigines - dark spots on the skin (E)lectrocardiographic conduction defects - abnormalities of the electrical activity of the heart (O)cular hypertelorism - widely spaced eyes (P)ulmonary stenosis - obstruction of the normal outflow of blood from the right ventricle of the heart (A)bnormalities of the genitalia (R)etarded (slowed) growth resulting in short stature (D)eafness There are 3 types of LEOPARD syndrome, which are distinguished by their genetic cause. Type 1 is caused by mutations in the PTPN11 gene ; type 2 is caused by mutations in the RAF1 gene ; and type 3 is caused by mutations in the BRAF gene . Other cases are caused by mutations in the MAP2K1 gene, and in some cases the cause is unknown. LEOPARD syndrome is inherited in an autosomal dominant manner. It can be inherited from an affected parent, or it can be due to a new mutation in a person with no family history of the condition.
- Leopard Syndrome 3 Omim
  
  A number sign (#) is used with this entry because of evidence that LEOPARD syndrome-3 (LPRD3) is caused by heterozygous mutation in the BRAF gene (164757) on chromosome 7q34. For a phenotypic description and a discussion of genetic heterogeneity of LEOPARD syndrome, see 151100. Clinical Features Sarkozy et al. (2009) reported a patient with LEOPARD syndrome who had poor growth, craniofacial anomalies, short and webbed neck, mitral and aortic valve dysplasia, cognitive deficits, neonatal hypotonia, sensorineural deafness, and seizures. Other features included thoracic defects, delayed puberty, reduced bone density, and fibrous cystic lesions of the pelvis. The skin showed hyperkeratosis, cafe-au-lait spots, multiple nevi, and dark colored lentigines that were spread on the whole body including the palms and soles.
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Omim

Of the 93 cases, 75 came from 17 families with affected persons of both sexes and the other 18 came from 11 families with only girls affected. The 28 kindreds included 45 pairs of parents with myopathic children.

SGCG, DMD, SGCA, DYSF, BCL2, CAPN3, MAP3K8, GJB2, LAMA2, SULT1E1, TP53, UTRN, SSPN, GJB6
- Limb-Girdle Muscular Dystrophy, Type 2c Gard
  
  Limb-girdle muscular dystrophy type 2C (LGMD2C) is a genetic condition that affects the voluntary muscles around the hips and shoulders. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies , which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles. Symptoms of LGMD2C usually appear around 6-8 years of age, may be mild or severe, and can progress to loss of the ability to walk by 12-16 years. Symptoms may additionally include: enlargement (hypertrophy) of the calf muscle and tongue, diseases of the heart muscle (cardiomyopathy), and respiratory abnormalities. LGMD2C is caused by mutations in the SGCG gene and is inherited in an autosomal recessive manner.
- Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 Orphanet
  
  A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.
Gastrointestinal Defects And Immunodeficiency Syndrome Omim

Of 13 affected individuals, 8 were alive at the time of the report, with the 3 oldest being 14, 28, and 50 years of age. Lemoine et al. (2014) also studied a 2-year-old boy from an unrelated family who had a similar but milder phenotype, with protracted neonatal bloody diarrhea and recurrent anal abscesses.

TTC7A, ADA, STPG4, MIA, AIP
- Multiple Intestinal Atresia Orphanet
  
  Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.
- Familial Multiple Intestinal Atresia Wikipedia
  
  Familial multiple intestinal atresia Other names Familial intestinal polyatresia syndrome Familial multiple intestinal atresia (FMIA) or Familial intestinal polyatresia syndrome (FIPA) is an inherited disorder where atresia occurs at multiple locations throughout the small and large intestines. It presents at birth and the prognosis is very poor with almost all those diagnosed with this condition dying with one month. It may be associated with combined immunodeficiency . Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Treatment 5 History 6 References Presentation [ edit ] In this disorder lesions can occur anywhere from the stomach to the anus. The clinical presentation depends on the location of the lesions(s). Genetics [ edit ] The underlying lesion in this condition appears to be a mutation in the TTC7A gene. [1] This gene is located on the short arm of chromosome 2 (2p16). Diagnosis [ edit ] This section is empty. You can help by adding to it . ( January 2018 ) Treatment [ edit ] This section is empty.
- Combined Immunodeficiency-Enteropathy Spectrum Orphanet
  
  A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.
Cerebral Creatine Deficiency Syndrome 1 Omim

A total of 10 patients (36%) demonstrated response to treatment, manifested by either an increase in cerebral creatine or improved clinical parameters. Seven of the 28 patients had quantified pre- and posttreatment creatine, and it was significantly increased posttreatment.

SLC6A8, GATM, GAMT, PNCK, CALCR, CALR, DLG3, POU3F3, ABCG2, BCAP31
- X-Linked Creatine Deficiency Medlineplus
  
  X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention-deficit/hyperactivity disorder (ADHD) or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with X-linked creatine deficiency may experience slow growth and exhibit delayed development of motor skills such as sitting and walking. Affected individuals tend to tire easily. A small number of people with X-linked creatine deficiency have additional signs and symptoms including abnormal heart rhythms, an unusually small head (microcephaly ), or distinctive facial features such as a broad forehead and a flat or sunken appearance of the middle of the face (midface hypoplasia ).
- Creatine Transporter Defect Wikipedia
  
  Creatine transporter defect Specialty Medical genetics Creatine Transporter Deficiency (CTD) is an inborn error of creatine metabolism in which creatine is not properly transported to the brain and muscles due to defective creatine transporters. CTD is an X-linked disorder caused by mutation in SLC6A8 . SLC6A8 is located at Xq28 . [1] Hemizygous males with CTD express speech and behavior abnormalities, intellectual disabilities , development delay, seizures, and autistic behavior . Heterozygous females with CTD generally express fewer, less severe symptoms. [1] [2] [3] CTD is one of three different types of cerebral creatine deficiency (CCD) . The other two types of CCD are guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency. Clinical presentation of CTD is similar to that of GAMT and AGAT deficiency. [4] [1] CTD was first identified in 2001 with the presence of a hemizygous nonsense change in SLC6A8 in a male patient. [1] Contents 1 Signs and symptoms 2 Genetics 3 Mechanism 4 Diagnosis 5 Treatment 6 References 7 External links Signs and symptoms [ edit ] Generally, the majority of individuals with creatine transporter defect express the following symptoms with varying levels of severity: developmental delay and regression, mental retardation, and abnormalities in expressive and cognitive speech. [5] However, several studies have shown a wider variety of symptoms including, but not limited to attention deficit and hyperactivity with impulsivity, myopathy , hypotonia , semantic-pragmatic language disorder , oral dyspraxia , extrapyramidal movement disorder , constipation, absent speech development, seizures, and epilepsy . [6] [2] [3] [7] Furthermore, symptoms can significantly vary between hemizygous males and heterozygous females, although, symptoms are generally more severe in hemizygous males.
- X-Linked Creatine Transporter Deficiency Orphanet
  
  X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures. Epidemiology CRTR-D has been reported in more than 150 individuals worldwide. Clinical description The onset of symptoms occurs during infancy, usually before the age of 2 years. Males are mainly affected, but females can also have various combinations and severities of disease manifestations. CRTR-D is consistently characterized by mild to severe intellectual deficit, and expressive speech and language delay.
- X-Linked Creatine Deficiency Gard
  
  X-linked creatine deficiency primarily affects development of the brain and nervous system. Symptoms can begin at any age, but usually begin in early childhood. These symptoms can include mild to severe intellectual disability, delayed speech development, behavioral problems, and seizures. The intellectual disability may get worse over time. X-linked creatine deficiency is caused by a SLC6A8 gene that is not working correctly. It is inherited in an X-linked pattern. Diagnosis is based on screening tests, clinical exam, and genetic testing. Treatment is focused on managing the symptoms.