See also [ edit ] Attention deficit hyperactivity disorder Aphasia Auditory processing disorder Developmental coordination disorder Dyscalculia Dysgraphia Dyslexia Hyperlexia Orthography Reading for special needs Scotopic sensitivity syndrome (also called Irlen Syndrome ) Specific language impairment Writing system References [ edit ] ^ dyslexia at NINDS ^ Rose, James. ... S2CID 6158584 . v t e Dyslexia and related specific developmental disorders Conditions Speech, language , and communication Expressive language disorder Infantile speech Landau–Kleffner syndrome Language disorder Lisp Mixed receptive-expressive language disorder Specific language impairment Speech and language impairment Speech disorder Speech error Speech sound disorder Stuttering Tip of the tongue Learning disability Dyslexia Dyscalculia Dysgraphia Disorder of written expression Motor Developmental coordination disorder Developmental verbal dyspraxia Sensory Auditory processing disorder Sensory processing disorder Related topics Dyslexia research Irlen filters Learning Ally Learning problems in childhood cancer Literacy Management of dyslexia Multisensory integration Neuropsychology Reading acquisition Spelling Writing system Lists Dyslexia in fiction Languages by Writing System People with dyslexia
However, there is a normal number of neural crest cells present. [4] There are also congenital structural anomalies that can lead to constipation, including anterior displacement of the anus, imperforate anus , strictures, and small left colon syndrome. [4] Anterior displacement of the anus can be diagnosed on physical exam. [7] The disease causes constipation because the inappropriate positioning of the anus which make it difficult to pass a bowel movement. Imperforate anus is an anus that ends in a blind pouch and does not connect to the rest of the person's intestines. Small left colon syndrome is a rare disease in which the left side of the babies colon has a small diameter, which makes it difficult for stool to pass. A risk factor for small left colon syndrome is having a mother with diabetes. [4] Some symptoms that may indicate an underlying disease include: [1] Bowel movements that contain blood.
Overview Constipation in children is a common problem. A constipated child has infrequent bowel movements or hard, dry stools. Common causes include early toilet training and changes in diet. Fortunately, most cases of constipation in children are temporary. Encouraging your child to make simple dietary changes — such as eating more fiber-rich fruits and vegetables and drinking more water — can go a long way toward alleviating constipation. If your child's doctor approves, it may be possible to treat a child's constipation with laxatives. Symptoms Signs and symptoms of constipation in children may include: Less than three bowel movements a week Bowel movements that are hard, dry and difficult to pass Pain while having a bowel movement Stomach pain Traces of liquid or pasty stool in your child's underwear — a sign that stool is backed up in the rectum Blood on the surface of hard stool If your child fears that having a bowel movement will hurt, he or she may try to avoid it.
Underlying causes of pelvic pain are often difficult to determine. [3] The condition affects up to 50% of women who have given birth. [4] Pelvic floor dysfunction may include any of a group of clinical conditions that includes urinary incontinence , fecal incontinence , pelvic organ prolapse , sensory and emptying abnormalities of the lower urinary tract , defecatory dysfunction, sexual dysfunction and several chronic pain syndromes, including vulvodynia in women and chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) in men. ... "Comprehensive pelvic floor physical therapy program for men with idiopathic chronic pelvic pain syndrome: a prospective study" . Translational Andrology and Urology . 6 (5): 910–915. doi : 10.21037/tau.2017.08.17 .
The symptoms are similar to pancreatitis secondary to other causes, although the presence of xanthomas or risk factors for hypertriglyceridemia may offer clues. [3] Causes [ edit ] Overeating [4] [5] Obesity Diabetes mellitus and insulin resistance - it is one of the defined components of metabolic syndrome (along with central obesity , hypertension , and hyperglycemia ) Excess alcohol consumption Kidney failure , nephrotic syndrome Genetic predisposition; some forms of familial hyperlipidemia such as familial combined hyperlipidemia i.e. ... Classification D ICD - 10 : E78.1 , E78.2 , E78.3 ICD - 9-CM : 272.1 OMIM : 145750 MeSH : D015228 DiseasesDB : 6372 External resources MedlinePlus : 000397 eMedicine : med/2921 article/126568 v t e Inborn error of lipid metabolism : dyslipidemia Hyperlipidemia Hypercholesterolemia / Hypertriglyceridemia Lipoprotein lipase deficiency/Type Ia Familial apoprotein CII deficiency/Type Ib Familial hypercholesterolemia/Type IIa Combined hyperlipidemia/Type IIb Familial dysbetalipoproteinemia/Type III Familial hypertriglyceridemia/Type IV Xanthoma/Xanthomatosis Hypolipoproteinemia Hypoalphalipoproteinemia/HDL Lecithin cholesterol acyltransferase deficiency Tangier disease Hypobetalipoproteinemia/LDL Abetalipoproteinemia Apolipoprotein B deficiency Chylomicron retention disease Lipodystrophy Barraquer–Simons syndrome Other Lipomatosis Adiposis dolorosa Lipoid proteinosis APOA1 familial renal amyloidosis
Rare neural tube defect characterised by fusion of the occiput with the spine Iniencephaly Other names Iniencephaly clausus Iniencephaly showing a stargazing head and an enlarged skull Symptoms Neural malformations Usual onset Congenital Duration Long term Types Iniencephaly apertus, Iniencephaly clausus Causes Unknown Diagnostic method Prenatal screening Differential diagnosis Klippel–Feil syndrome Prevention Prenatal screening Treatment None Medication None Prognosis Mostly stillborn Frequency Rare Iniencephaly is a rare type of cephalic disorder [1] [2] characterised by three common characteristics: a defect to the occipital bone , spina bifida of the cervical vertebrae and retroflexion (backward bending) of the head on the cervical spine . [3] Stillbirth is the most common outcome, with a few rare examples of live birth, after which death almost invariably occurs within a short time. ... External links [ edit ] Classification D ICD - 10 : Q00.2 ICD - 9-CM : 740.2 External resources Orphanet : 63259 v t e Congenital malformations and deformations of nervous system Brain Neural tube defect Anencephaly Acephaly Acrania Acalvaria Iniencephaly Encephalocele Chiari malformation Other Microcephaly Congenital hydrocephalus Dandy–Walker syndrome other reduction deformities Holoprosencephaly Lissencephaly Microlissencephaly Pachygyria Hydranencephaly Septo-optic dysplasia Megalencephaly Hemimegalencephaly CNS cyst Porencephaly Schizencephaly Polymicrogyria Bilateral frontoparietal polymicrogyria Spinal cord Neural tube defect Spina bifida Rachischisis Other Currarino syndrome Diastomatomyelia Syringomyelia
Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system. Epidemiology Incidence is estimated at between 1/1,000 and 1/100,000 live births, depending on the geographical area, and more female infants are affected (male:female sex ratio: 1:3 to 1:9). Clinical description The cardinal features are occipital bone defect, partial or total absence of cervicothoracic vertebrae, fetal retroflexion of the head and characteristic absence of the neck. It is associated with malformations of the central nervous (spina bifida and/or anencephaly), gastrointestinal (omphalocele) and cardiovascular systems. Etiology As with other neural tube defects, it is thought to be of multifactorial origin.
These symptoms have been related to Sick Building Syndrome , which involves symptoms such as irritation to the eyes, skin, and upper airways, headache and fatigue. [2] The eye is also a source of chronic irritation. Disorders like Sjögren's syndrome , where one does not make tears, can cause a dry eye sensation which feels very unpleasant. ... "Influence of indoor air quality and personal factors on the sick building syndrome (SBS) in Swedish geriatric hospitals
External links [ edit ] Classification D ICD - 10 : O00.8 ICD - 9-CM : 633.1 MeSH : D065167 The Ectopic Pregnancy Trust - Information and support for those who have suffered the condition by a medically overseen and moderated UK based charity, recognised by the National Health Service (UK) Department of Health (UK) and Royal College of Obstetricians and Gynaecologists v t e Pathology of pregnancy , childbirth and the puerperium Pregnancy Pregnancy with abortive outcome Abortion Ectopic pregnancy Abdominal Cervical Interstitial Ovarian Heterotopic Embryo loss Fetal resorption Molar pregnancy Miscarriage Stillbirth Oedema , proteinuria and hypertensive disorders Gestational hypertension Pre-eclampsia HELLP syndrome Eclampsia Other, predominantly related to pregnancy Digestive system Acute fatty liver of pregnancy Gestational diabetes Hepatitis E Hyperemesis gravidarum Intrahepatic cholestasis of pregnancy Integumentary system / dermatoses of pregnancy Gestational pemphigoid Impetigo herpetiformis Intrahepatic cholestasis of pregnancy Linea nigra Prurigo gestationis Pruritic folliculitis of pregnancy Pruritic urticarial papules and plaques of pregnancy (PUPPP) Striae gravidarum Nervous system Chorea gravidarum Blood Gestational thrombocytopenia Pregnancy-induced hypercoagulability Maternal care related to the fetus and amniotic cavity amniotic fluid Oligohydramnios Polyhydramnios Braxton Hicks contractions chorion / amnion Amniotic band syndrome Chorioamnionitis Chorionic hematoma Monoamniotic twins Premature rupture of membranes Obstetrical bleeding Antepartum placenta Circumvallate placenta Monochorionic twins Placenta accreta Placenta praevia Placental abruption Twin-to-twin transfusion syndrome Labor Amniotic fluid embolism Cephalopelvic disproportion Dystocia Shoulder dystocia Fetal distress Locked twins Nuchal cord Obstetrical bleeding Postpartum Pain management during childbirth placenta Placenta accreta Preterm birth Postmature birth Umbilical cord prolapse Uterine inversion Uterine rupture Vasa praevia Puerperal Breastfeeding difficulties Low milk supply Cracked nipples Breast engorgement Childbirth-related posttraumatic stress disorder Diastasis symphysis pubis Postpartum bleeding Peripartum cardiomyopathy Postpartum depression Postpartum psychosis Postpartum thyroiditis Puerperal fever Puerperal mastitis Other Concomitant conditions Diabetes mellitus Systemic lupus erythematosus Thyroid disorders Maternal death Sexual activity during pregnancy Category
Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.
Overview The Bartholin's (BAHR-toe-linz) glands are located on each side of the vaginal opening. These glands secrete fluid that helps lubricate the vagina. Sometimes the openings of these glands become obstructed, causing fluid to back up into the gland. The result is relatively painless swelling called a Bartholin's cyst. If the fluid within the cyst becomes infected, you may develop a collection of pus surrounded by inflamed tissue (abscess). A Bartholin's cyst or abscess is common. Treatment of a Bartholin's cyst depends on the size of the cyst, how painful the cyst is and whether the cyst is infected.
Shelley and Rawnsley (1964) described urticaria on contact with water. Heat or cold had no effect. Bonnetblanc et al. (1979) reported aquagenic urticaria in a woman and her paternal aunt. Inheritance - Autosomal dominant Skin - Urticaria on contact with water - No effect of heat or cold ▲ Close
Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success.
A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures that typically begins in a single limb and, in most individuals, followed by progressive involvement of other limbs and the trunk, typically sparing the cranial and cervical region. Epidemiology The prevalence varies according to region and ethnic population. In the USA the estimated prevalence in the general population is approximately 1/30,000, whilst in Europe the estimated prevalence ranges from 1/ 200,000-330,000, although precise figures are currently not available. The estimated prevalence in the Ashkenazi Jewish population is much higher at 1/3,000-9,000, due to a founder effect. Clinical description Symptoms typically develop first in an arm or leg with dystonic muscle contractions in middle to late childhood, and may first become apparent with specific actions such as writing or walking.
The nuclei are usually round to oval in shape, with occasional patients having cells with a more irregular nuclear outline that is similar to the cerebriform nuclear shape seen in Sézary syndrome . [3] A small cell variant comprises 20% of all T-PLL cases, and the Sézary cell-like (cerebriform) variant is seen in 5% of cases. [3] Marrow involvement is typically diffuse with morphology similar to what is observed in peripheral blood. [1] In the spleen , the leukemic cell infiltrate both the red pulp and white pulp , and lymph node involvement is typically diffuse through the paracortex . [1] Skin infiltrates are seen in 20% of patients, and the infiltrates are usually dense and confined to the dermis and around the skin appendages. [2] Immunophenotype [ edit ] T-PLL has the immunophenotype of a mature (post-thymic) T-lymphocyte, and the neoplastic cells are typically positive for pan-T antigens CD2 , CD3 , and CD7 and negative for TdT and CD1a . ... External links [ edit ] Classification D ICD-O : M9834/3 MeSH : D015461 External resources Orphanet : 86871 v t e Leukaemias , lymphomas and related disease B cell ( lymphoma , leukemia ) (most CD19 CD20 ) By development/ marker TdT+ ALL ( Precursor B acute lymphoblastic leukemia/lymphoma ) CD5 + naive B cell ( CLL/SLL ) mantle zone ( Mantle cell ) CD22 + Prolymphocytic CD11c+ ( Hairy cell leukemia ) CD79a + germinal center / follicular B cell ( Follicular Burkitt's GCB DLBCL Primary cutaneous follicle center lymphoma ) marginal zone / marginal zone B-cell ( Splenic marginal zone MALT Nodal marginal zone Primary cutaneous marginal zone lymphoma ) RS ( CD15 +, CD30 +) Classic Hodgkin lymphoma ( Nodular sclerosis ) CD20+ ( Nodular lymphocyte predominant Hodgkin lymphoma ) PCDs / PP ( CD38 +/ CD138 +) see immunoproliferative immunoglobulin disorders By infection KSHV ( Primary effusion ) EBV Lymphomatoid granulomatosis Post-transplant lymphoproliferative disorder Classic Hodgkin lymphoma Burkitt's lymphoma HCV Splenic marginal zone lymphoma HIV ( AIDS-related lymphoma ) Helicobacter pylori ( MALT lymphoma ) Cutaneous Diffuse large B-cell lymphoma Intravascular large B-cell lymphoma Primary cutaneous marginal zone lymphoma Primary cutaneous immunocytoma Plasmacytoma Plasmacytosis Primary cutaneous follicle center lymphoma T/NK T cell ( lymphoma , leukemia ) (most CD3 CD4 CD8 ) By development/ marker TdT+ : ALL ( Precursor T acute lymphoblastic leukemia/lymphoma ) prolymphocyte ( Prolymphocytic ) CD30+ ( Anaplastic large-cell lymphoma Lymphomatoid papulosis type A ) Cutaneous MF+variants indolent: Mycosis fungoides Pagetoid reticulosis Granulomatous slack skin aggressive: Sézary disease Adult T-cell leukemia/lymphoma Non-MF CD30 -: Non-mycosis fungoides CD30− cutaneous large T-cell lymphoma Pleomorphic T-cell lymphoma Lymphomatoid papulosis type B CD30 +: CD30+ cutaneous T-cell lymphoma Secondary cutaneous CD30+ large-cell lymphoma Lymphomatoid papulosis type A Other peripheral Hepatosplenic Angioimmunoblastic Enteropathy-associated T-cell lymphoma Peripheral T-cell lymphoma not otherwise specified ( Lennert lymphoma ) Subcutaneous T-cell lymphoma By infection HTLV-1 ( Adult T-cell leukemia/lymphoma ) NK cell / (most CD56 ) Aggressive NK-cell leukemia Blastic NK cell lymphoma T or NK EBV ( Extranodal NK-T-cell lymphoma / Angiocentric lymphoma ) Large granular lymphocytic leukemia Lymphoid+ myeloid Acute biphenotypic leukaemia Lymphocytosis Lymphoproliferative disorders ( X-linked lymphoproliferative disease Autoimmune lymphoproliferative syndrome ) Leukemoid reaction Diffuse infiltrative lymphocytosis syndrome Cutaneous lymphoid hyperplasia Cutaneous lymphoid hyperplasia with bandlike and perivascular patterns with nodular pattern Jessner lymphocytic infiltrate of the skin General Hematological malignancy leukemia Lymphoproliferative disorders Lymphoid leukemias
A rare mature T-cell neoplasm characterized by proliferation of small to medium-sized prolymphocytes with a mature post-thymic T-cell phenotype, involving the peripheral blood, bone marrow, lymph nodes, liver, spleen, and sometimes the skin. T-cell receptor genes are clonally rearranged. Patients typically present with hepatosplenomegaly, generalized lymphadenopathy, high leukocyte count with normal serum immunoglobulins, anemia, and thrombocytopenia. HTLV-1 serology is negative. The disease course is aggressive with generally poor prognosis.
The neurologic deterioration was consistent with Leigh syndrome (256000) in the older brother; he was very hypotonic with bilateral optic atrophy at the age of 5 years, and he died of respiratory insufficiency at the age of 6 years. ... Najmabadi et al. (2011) performed homozygosity mapping followed by exon enrichment and next-generation sequencing in 136 consanguineous families (over 90% Iranian and less than 10% Turkish or Arabic) segregating syndromic or nonsyndromic forms of autosomal recessive intellectual disability. ... INHERITANCE - Autosomal recessive HEAD & NECK Head - Trigonocephaly - Frontal metopic ridge - Microcephaly Eyes - Optic atrophy - Hypertelorism - Epicanthal folds - Abnormal ocular movements Mouth - High palate CHEST Ribs Sternum Clavicles & Scapulae - Pectus excavatum (1 patient) NEUROLOGIC Central Nervous System - Hypotonia, neonatal - Developmental delay - Psychomotor delay - Pyramidal hypertonia - Spastic paraplegia - Spastic quadriplegia - Ataxia - Unsteady gait - Poor fine and gross motor coordination - Dystonia - Seizures - Mental retardation - Basal ganglia lucencies - Subependymal cysts - Corpus callosum agenesis, partial METABOLIC FEATURES - Lactic acidosis - Metabolic acidosis LABORATORY ABNORMALITIES - Lacticacidemia - Increased serum pyruvate - Increased serum alanine - Decreased activity of the pyruvate dehydrogenase (PDH) complex - Decreased levels of component X protein of the PDH complex MISCELLANEOUS - Onset at birth or in early childhood - Variable severity - Phenotypic similarities to Leigh syndrome ( 256000 ) - Patients may or may not have dysmorphic features MOLECULAR BASIS - Caused by mutation in the component X gene of the pyruvate dehydrogenase complex (PDHX, 608769.0001 ) ▲ Close
Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction. Epidemiology Prevalence is unknown. About 20 cases have been reported to date. The disorder is more frequent than PDHD E2 deficiency but less frequent than E1-alpha deficiency (see these terms). Clinical description Patients usually present with neonatal lactic acidosis or with delayed development and hypotonia during infancy. In contrast to other forms of pyruvate dehydrogenase deficiency, patients with E3 binding protein deficiency often survive well into childhood or adult life as there is some assembly of the pyruvate dehydrogenase complex even with complete deficiency of this protein.