A number sign (#) is used with this entry because this form of X-linked mental retardation (MRXSW) is caused by mutation in the GRIA3 gene (305915). Clinical Features Wu et al. (2007) identified 3 families in which X-linked mental retardation clearly segregated with mutations in the GRIA3 gene. The probands were identified from a group of 400 unrelated males with MRX who were specifically screened for GRIA3 mutations. In 1 family, 2 affected individuals had moderate MR, macrocephaly, seizures, myoclonic jerks, and autistic behavior (G833R; 305915.0001). Four patients from a second family with had moderate MR and asthenic body habitus (R631S; 305915.0002).
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self injury and aggressive outbursts.
Wider et al. (1969) described 3 sisters with nonpuerperal galactorrhea occurring after treatment with oral contraceptive. Although all 3 had oligoovulation, the evidence suggested independent control of ovulation and lactation: galactorrhea continued in one sister while she took an oral contraceptive containing estrogen-progesterone, which presumably suppressed production of plasma gonadotropin. Galactorrhea continued even when ovulation was induced by measures which stimulated the release of gonadotropins. Two of the sisters conceived after ovulations which occurred despite continuing galactorrhea. GU - Oligoovulation Thorax - Nonpuerperal galactorrhea Inheritance - Autosomal recessive ▲ Close
The disorder, a pure motor neuropathy syndrome, is sometimes mistaken for amyotrophic lateral sclerosis (ALS) because of the similarity in the clinical picture, especially if muscle fasciculations are present. ... These criteria are designed to differentiate the disorder from ALS (purely motor but with UMN signs), the Lewis-Sumner Syndrome variant of Chronic inflammatory demyelinating polyneuropathy (CIDP) (similar to MMN but usually with significant sensory loss), and “ vasculitis ” (a type of multiple mononeuropathy syndrome caused by inflammatory damage to the blood vessels in nerves that also causes sensory and motor symptoms). [ citation needed ] A neurologist is usually needed to determine the diagnosis, which is based on the history and physical examination along with the electrodiagnostic study, which includes nerve conduction studies (NCS) and needle electromyography (EMG).
Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.
Multifocal motor neuropathy (MMN) causes damage to the nerves in the arms and legs. Nerve damage begins in adulthood and slowly gets worse over time. One side of the body may be more affected than the other. Symptoms of MMN may include weakness in the hands and lower arms; cramping; involuntary contractions or twitching; wrist drop or foot drop , and wasting of the affected muscles. MMN is thought to be due to an abnormal immune response, but the underlying cause is not clear. Diagnosis is based on the symptoms, clinical exam, and specific laboratory testing.
He is believed to be the first person in the world to recover sensory function from a complete severing of the spinal nerves. [5] [6] See also [ edit ] Adapted automobile Cauda equina syndrome Hemiplegia Quadriplegia Hughes-Stovin syndrome Regeneration in humans The Body Silent Sexuality after spinal cord injury Spinal cord injury research References [ edit ] ^ "Standard Neurological Classification of Spinal Cord Injury" (PDF). ... External links [ edit ] Classification D ICD - 10 : G82.1 ICD - 9-CM : 334.1 , 344.1 MeSH : D010264 Look up paraplegia in Wiktionary, the free dictionary. v t e Symptoms and signs relating to movement and gait Gait Gait abnormality CNS Scissor gait Cerebellar ataxia Festinating gait Marche à petit pas Propulsive gait Stomping gait Spastic gait Magnetic gait Truncal ataxia Muscular Myopathic gait Trendelenburg gait Pigeon gait Steppage gait Antalgic gait Coordination Ataxia Cerebellar ataxia Dysmetria Dysdiadochokinesia Pronator drift Dyssynergia Sensory ataxia Asterixis Abnormal movement Athetosis Tremor Fasciculation Fibrillation Posturing Abnormal posturing Opisthotonus Spasm Trismus Cramp Tetany Myokymia Joint locking Paralysis Flaccid paralysis Spastic paraplegia Spastic diplegia Spastic paraplegia Syndromes Monoplegia Diplegia / Paraplegia Hemiplegia Triplegia Tetraplegia / Quadruplegia General causes Upper motor neuron lesion Lower motor neuron lesion Weakness Hemiparesis Other Rachitic rosary Hyperreflexia Clasp-knife response
Contents 1 Risk groups 2 Overuse injuries in climbing 2.1 Finger injuries 2.1.1 Pulleys 2.1.2 Knuckle 2.2 Shoulder injuries 2.3 Elbow injuries 2.4 Calluses, dry skin 3 Young/adolescent climbers 4 See also 5 References Risk groups [ edit ] The climbers most prone to injuries are intermediate to expert within lead climbing or bouldering. [2] Overuse injuries in climbing [ edit ] In terms of overuse injuries a British study found that: [3] 40% occurred in the fingers 16% in the shoulders 12% in the elbows 5% in the knees 5% in the back 4% in the wrists One injury that tend to be very common among climbers is Carpal tunnel syndrome . It is found in about 25% of climbers. [4] Finger injuries [ edit ] 604 injured rock climbers were prospectively evaluated from January 1998 to December 2001, due to the rapid growth of new complex finger trauma in the mid-1980s. ... These skeletally immature athletes are very susceptible to developing debilitating joint arthritis later in adulthood." [10] See also [ edit ] Related topics Carpal tunnel syndrome Climber's finger Golfer's elbow Repetitive strain injury Radial tunnel syndrome Tennis elbow Lists and glossaries List of climbing topics Climbing terminology Climbing command References [ edit ] ^ Hörst, Eric J. (2003).
External links [ edit ] Classification D ICD - 9-CM : 752.69 v t e Male congenital anomalies of the genitalia, including Intersex and DSD Internal Testicle Cryptorchidism Polyorchidism Monorchism Anorchia Sertoli cell-only syndrome True hermaphroditism Mixed gonadal dysgenesis Swyer syndrome Vas deferens Congenital absence of the vas deferens Other Persistent Müllerian duct syndrome External Penis Hypospadias Epispadias Chordee Micropenis Penile agenesis Diphallia Penoscrotal transposition Other Pseudohermaphroditism
Don Juanism or Don Juan syndrome is a non-clinical term for the desire, in a man, to have sex with many different female partners. ... According to Millon, the Don Juan or Casanova of our times is erotic and exhibitionistic . [4] Psychoanalysis [ edit ] Sigmund Freud explored the connections between mother-fixation and a long series of love-attachments in the first of his articles on the 'Psychology of Love'; [5] while Otto Rank published an article on the Don Juan gestalt in 1922. [6] Otto Fenichel saw Don Juanism as linked to the quest for narcissistic supply , and for proof of achievement (as seen in the number of conquests). [7] He also described what he called the 'Don Juans of Achievement' – people compelled to flee from one achievement to another in an unconscious but never ending quest to overcome an unconscious sense of guilt [8] Sándor Ferenczi stressed the fear of punishment (Hell) in the syndrome, linking it to the Oedipus complex . [9] Contemporary psychoanalysis stresses the denial of psychic reality and the avoidance of change implicit in Don Juan's (identificatory) pursuit of multiple females. [10] Cultural references [ edit ] Aspects of the character are examined by Mozart and his librettist Da Ponte in their opera Don Giovanni , perhaps the best-known artistic work on this subject. ... Le Faye ed., Jane Austen's Letters (1996) p. 221 ^ Anthony Powell, Casanova's Chinese Restaurant (1980) p. 38 Further reading [ edit ] Juliet Mitchell, Mad Men and Medusas (2000) v t e Narcissism Types Collective Egomania Flying monkeys Healthy Malignant Narcissistic personality disorder Spiritual Workplace Characteristics Betrayal Boasting Egocentrism Egotism Empathy (lack of) Envy Entitlement (exaggerated sense of) Fantasy Grandiosity Hubris Magical thinking Manipulative Narcissistic abuse Narcissistic elation Narcissistic rage and narcissistic injury Narcissistic mortification Narcissistic supply Narcissistic withdrawal Perfectionism Self-esteem Self-righteousness Shamelessness Superficial charm Superiority complex True self and false self Vanity Defences Denial Idealization and devaluation Distortion Projection Splitting Cultural phenomena Control freak Don Juanism Dorian Gray syndrome My way or the highway Selfie Related articles Codependency Counterdependency Dark triad Ego ideal "Egomania" (film) Egotheism Empire-building God complex History of narcissism Messiah complex Micromanagement Narcissism of small differences Narcissistic leadership Narcissistic parent Narcissistic Personality Inventory Narcissus (mythology) On Narcissism Sam Vaknin Self-love Self-serving bias Spoiled child The Culture of Narcissism Workplace bullying
Complications [ edit ] Portal hypertension Ascites Hypersplenism (with or without splenomegaly) Lower oesophageal varices and rectal varices Synthetic dysfunction Hypoalbuminaemia Coagulopathy Hepatopulmonary syndrome Hepatorenal syndrome Encephalopathy Hepatocellular carcinoma Causes [ edit ] The list of conditions associated with chronic liver disease is extensive and can be categorised in the following way: [3] Viral causes Hepatitis B Hepatitis C Cytomegalovirus (CMV), Epstein Barr virus (EBV), and yellow fever viruses cause acute hepatitis. ... Excessive alcohol use Obesity Metabolic syndrome including raised blood lipids Health care professionals who are exposed to body fluids and infected blood Sharing infected needle and syringes Having unprotected sex and multiple sex partners Working with toxic chemicals without wearing safety clothes Certain prescription medications Diagnosis [ edit ] Chronic liver disease takes several years to develop and the condition may not be recognised unless there is clinical awareness of subtle signs and investigation of abnormal liver function tests .
External links [ edit ] Classification D ICD - 10 : Q55.0 ICD - 9-CM : 752.89 v t e Male congenital anomalies of the genitalia, including Intersex and DSD Internal Testicle Cryptorchidism Polyorchidism Monorchism Anorchia Sertoli cell-only syndrome True hermaphroditism Mixed gonadal dysgenesis Swyer syndrome Vas deferens Congenital absence of the vas deferens Other Persistent Müllerian duct syndrome External Penis Hypospadias Epispadias Chordee Micropenis Penile agenesis Diphallia Penoscrotal transposition Other Pseudohermaphroditism
Contents 1 Description 2 Diagnosis 3 Treatment 4 References 5 Further reading 6 External links Description [ edit ] SHG is caused by a nonsense mutation in codon 1027 of the COL4A5 gene on the X chromosome ( glycine to stop codon ), which is similar to Alport's syndrome in humans. [3] The disease is simply inherited, X-linked dominant, with males generally having more severe symptoms than females. ... "Cyclosporine A Slows the Progressive Renal Disease of Alport Syndrome (X-Linked Hereditary Nephritis): Results from a Canine Model" . ... "Regulation of collagen type IV genes is organ-specific: Evidence from a canine model of Alport syndrome". Kidney International . 68 (5): 2121–30. doi : 10.1111/j.1523-1755.2005.00668.x .
A gelastic seizure , also known as "gelastic epilepsy", is a rare type of seizure that involves a sudden burst of energy, usually in the form of laughing. [1] This syndrome usually occurs for no obvious reason and is uncontrollable. It is slightly more common in males than females. This syndrome can go for very long periods of time without a diagnosis, as it may resemble normal laughing or crying if it occurs infrequently. ... If a person who suffers from the seizures is hooked up to an electroencephalogram , it will reveal interictal epileptic discharges. This syndrome usually manifests itself before the individual reaches the age of three or four.
It should be distinguished from other forms of prostatitis such as chronic bacterial prostatitis and chronic pelvic pain syndrome (CPPS) . Contents 1 Signs and symptoms 2 Diagnosis 3 Treatment 4 Prognosis 5 References 6 External links Signs and symptoms [ edit ] Men with acute prostatitis often have chills, fever, pain in the lower back, perineum , or genital area, urinary frequency and urgency often at night , burning or painful urination , body aches, and a demonstrable infection of the urinary tract, as evidenced by white blood cells and bacteria in the urine . ... External links [ edit ] Prostatitis at Curlie Classification D ICD - 10 : N41.0 ICD - 9-CM : 601.0 DiseasesDB : 10801 External resources MedlinePlus : 000519 eMedicine : med/2845 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
A number sign (#) is used with this entry because evidence suggests that some patients with schizencephaly have mutations in the EMX2 (600035), SIX3 (603714), or SHH (600725) genes. Description Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992).
A rare developmental defect during embryogenesis characterized by the presence of linear clefts containing cerebrospinal fluid lined by abnormal grey matter that extend from the lateral ventricles to the pial surface of the cortex. Schizencephaly can involve one or both cerebral hemispheres and may lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation. Epidemiology The birth prevalence is estimated at 1/64,935 in the USA and 1/69,444 in the UK. Clinical description Patients have varying clinical features including epilepsy (50-60% of cases), motor impairment, microcephaly and cognitive and learning disability. The severity of the clinical manifestations depends upon the extent of clefting and on whether other cerebral malformations are present.
Schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. People with schizencephaly may also have an abnormally small head (microcephaly); hydrocephalus; intellectual disability; partial or complete paralysis; and/or poor muscle tone (hypotonia). Severity of symptoms depends on many factors including the extent of the clefting and whether or not other brain abnormalities are present. Although the exact cause of schizencephaly is unknown, it has been linked to a variety of genetic and non-genetic factors.