Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of 13-year-old girl with short stature, microcephalus, blepharophimosis, ptosis, bilateral microphthalmia (more prominent in the right), hypogonadism, other minor anomalies, and severe mental retardation. Her mother had two spontaneous abortions. She was born as the second baby of dizygotic twins. The first baby died of diaphragm hernia and heart failure. Her body height, body weight and head circumference were below -3 SD. She did not have epicanthus inversus, hypoplastic teeth, heart anomalies, seizures, muscle weakness, and hearing loss. She was able to handle her wheelchair, but could neither understand nor speak meaningful words. When she looked at something in front of herself, she turned her face up and lifted the left eyelid with her own fingers. She had no somatic change of puberty. Laboratory and radiological examinations demonstrated a normal karyotype, normal bone age, findings of Chilaiditi syndrome, and absence of brain malformation on cranial CT. The serum levels of LH and FSH were high for age and those of estradiol and progesterone were low, suggesting immaturity of ovarian function. These findings suggested the ovarian functions might not get maturations. Hypogonadism has previously been reported in female cases of the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) type I, but not in those with the Ohdo blepharophimosis syndrome (OBS). Our case's condition differs from BPES because of the presence of mental retardation and the absence of epicanthus inversus. We also discuss the distinction from OBS, a disease entity of unknown etiology presenting with a variety of complications.
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PMID:[A case of severe mental retardation with blepharophimosis, ptosis, microphthalmia, microcephalus, hypogonadism and short stature--the difference from Ohdo blepharophimosis syndrome]. 1517 98

To compare the effect of standard trauma craniectomy (STC) versus limited craniectomy (LC) on the outcome of severe traumatic brain injury (TBI) with refractory intracranial hypertension, we conducted a study at five medical centers of 486 patients with severe TBI (Glasgow Coma Scale score </= 8) and refractory intracranial hypertension. In all 486 cases, refractory intracranial hypertension, caused by unilateral massive frontotemporoparietal contusion, intracerebral/subdural hematoma, and brain edema, was confirmed on a CT scan. The patients were randomly divided into two groups, one of which underwent STC (n = 241) with a unilateral frontotemporoparietal bone flap (12 x 15 cm), and the second of which underwent LC (n = 245) with a routine temporoparietal bone flap (6 x 8 cm). At 6-month follow-up, 96 patients (39.8%) in the STC group had a favorable outcome on the basis of the Glasgow Outcome Scale, including 62 patients who had a good recovery and 34 who showed moderate deficits. Another 145 patients (60.2%) in the STC group had an unfavorable outcome, including 73 with severe deficits, nine with persistent vegetative status, and 63 who died. By comparison, only 70 patients (28.6%) in the LC group had a favorable outcome, including 41 who had a good recovery and 29 who had moderate deficits. Another 175 patients (71.4%) in the LC group had an unfavorable outcome, including 82 with severe deficits, seven with persistent vegetative status, and 86 who died (p < 0.05). In addition to these findings, the incidence of delayed intracranial hematoma, incisional hernia, and CSF fistula was lower in the STC group than in the LC group (p < 0.05), although the incidence of acute encephalomyelocele, traumatic seizure, and intracranial infection was not significantly different in the two groups (p > 0.05). The results of the study indicate that STC significantly improves outcome in severe TBI with refractory intracranial hypertension resulting from unilateral frontotemporoparietal contusion with or without intracerebral or subdural hematoma. This suggests that STC, rather than LC, be recommended for such patients.
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PMID:Efficacy of standard trauma craniectomy for refractory intracranial hypertension with severe traumatic brain injury: a multicenter, prospective, randomized controlled study. 1594 72

Pallister-Killian Syndrome (PKS) is a rare sporadic congenital anomaly disorder, characterized by multiple congenital anomalies, especially craniofacial dysmorphism. It is also associated with mental retardation, seizure, skin pigmentation, and visceral malformations such as congenital diaphragmatic hernia, congenital heart defect, anorectal anomalies, and genital malformation. This syndrome usually presents with tissue-limited mosaicism of supernumerary 12p isochromosome i (12p). Moreover, diagnosis of Pallister-Killian Syndrome (PKS) is difficult because the ratio of abnormal to normal karyotyping is much lower in peripheral lymphocytes than in skin fibroblasts. We report the first case in Taiwan, who has tetrasomy 12p mosaic in peripheral lymphocytes.
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PMID:Pallister-Killian syndrome: report of one case. 1707 67

A small supernumerary marker chromosome (SMC) was observed in a girl with severe developmental delay. Her dysmorphism included prominent forehead, hypertelorism, down-slanting palpebral fissures, low-set/large ears, and flat nasal bridge with anteverted nares. This case also presented hypotonia, hypermobility of joints, congenital heart defect, umbilical hernia, failure to thrive, and seizures. The SMC originated from the distal region of Xp as identified by FISH with multiple DNA probes. Staining with antibodies to Centromere Protein C (CENP-C) demonstrated a neocentromere, while FISH with an alpha-satellite DNA probe showed no hybridization to the SMC. A karyotype was described as 47,XX,+neo(X)(pter-->p22.31::p22.31-->pter), indicating a partial tetrasomy of Xp22.31-->pter. This karyotype represents a functional trisomy for Xp22.31-->pter and a functional tetrasomy for the pseudoautosomal region given that there is no X-inactivation center in the marker chromosome. The SMC was further characterized by microarray-based comparative genomic hybridization (array CGH) as a duplicated DNA fragment of approximately 13 megabase pairs containing about 100 genes. We have described here a new neocentromere with discussion of its clinical significance.
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PMID:Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH. 1726 94

Infants with severe cardiorespiratory failure treated with extracorporeal membrane oxygenation are at risk of hypoxic-ischemic injury and infarction of the brain, intracranial hemorrhage, and seizures. Consequently, this can lead to adverse neurodevelopmental outcome. We present a neonate treated with veno-arterial extracorporeal membrane oxygenation due to diaphragmatic hernia. The infant's brain function was continuously monitored with amplitude-integrated electroencephalography. The child experienced clinical seizures and subclinical seizure discharges, detected by amplitude-integrated electroencephalography, permitting the opportunity to treat them and adjust the anticonvulsive treatment accordingly.
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PMID:Detection of seizures with amplitude-integrated electroencephalography in a neonate treated with extracorporeal membrane oxygenation. 1870 89

Microphthalmia with linear skin defects syndrome is an X-linked dominant disorder characterized by microphthalmia and other ocular anomalies as well as linear, jagged skin defects typically involving the scalp, face, neck, and upper trunk. Other associated characteristics include short stature, developmental delay, congenital heart defects, diaphragmatic hernia, agenesis of the corpus callosum, anencephaly, hydrocephalus, and seizures. Microphthalmia with linear skin defects syndrome is now known to be associated with a deletion of the X chromosome at Xp22. This is an area that has been found to include the HCCS gene, which encodes a holocytochrome c-type synthase believed to be critical in the regulation of apoptosis. We present a patient with classic clinical and genetic findings of MLS syndrome and discuss the primary characteristics and management of this disorder.
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PMID:Microphthalmia with linear skin defects: a case report and review. 1895 Mar 97

The authors report the study of a 30-month-old girl with refractory myoclonic epilepsy associated with mental retardation, growth delay, peculiar facial appearance, and minor physical anomalies. Extensive genetic studies were performed, including an array-based comparative genomic hybridization (array-CGH) that showed a cryptic interstitial deletion of 15q (5 Mb) affecting the 15q26.1-26.2 region. Partial deletions of the long arm of chromosome 15, including the 15q26 region, were observed in syndromic associations that typically include congenital diaphragmatic hernia, but neurologic features were poorly described and epileptic seizures were never reported. Our findings suggest that genes for seizures could be included in the 15q26.1q26.2 deletion interval.
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PMID:Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case. 1948 60

Altered mental status can have many causes, some of which are life threatening, especially in children. In addition to the usual central nervous system and metabolic causes, such as meningitis, encephalitis, seizure, electrolyte imbalance, and inborn errors of metabolism, some less common causes of altered mental status, which if not diagnosed and managed rapidly, can have poor consequences. We present a case of a child with a life-threatening unusual cause of altered mental status, a mesenteric hernia with hypovolemic shock. The hernia was reduced successfully at laparotomy. The postoperative course was uneventful.
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PMID:An unusual cause of pediatric altered mental status: a mesenteric hernia. 1975 98

Fryns syndrome (FS) is a rare early lethal autosomal recessive disorder. The diagnosis is clinical since the underlying molecular defect is currently unknown. We report on a 6-year-old male child displaying an association of congenital diaphragmatic hernia (CDH), lung hypoplasia, corneal clouding and coarse face in the absence of distal digital/nail hypoplasia. Based on the recently published diagnostic guidelines, our patient fits the narrow definition of FS. Only a minority of FS patients surviving the neonatal period have been reported, thus limiting the recognition of the infantile phenotype. We compared the features observed in our proband with those of 10 published survivors. Neurological impairment ranging from mild to severe was present in all patients, while seizures manifested in one third of them, often in association with central nervous system malformations. Other characteristic features included central-paracentral corneal clouding, coarsening of the facial traits, gastroesophageal reflux, Hirschsprung disease, intestinal malrotation, hydronephrosis and vescico-ureteral reflux. These manifestations are representative of the natural history of this condition and should also be searched for in FS survivors.
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PMID:A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 1980 39

Delayed homicides result from complications of remote injuries inflicted by "the hands of another." The investigation of delayed homicides may be a challenge due to a number of factors including: failure to report the death to the proper authorities, lack of ready and adequate documentation of the original injury and circumstances, and jurisdictional differences between the places of injury and death. The certification of these deaths also requires the demonstration of a pathophysiologic link between the remote injury and death. In sorting through these issues, it is helpful to rely upon the definition of the proximate cause of death. Over a 2-year period in New York City, there were 1211 deaths certified as homicide of which 42 were due to injuries sustained greater than 1 year before death. The survival interval ranged from 1.3 to 43.2 years. The most common immediate causes of death were: infections (22), seizures (7), and intestinal obstructions/hernias (6). Common patterns of complications included infection following a gunshot wound of the spinal cord, seizure disorder due to blunt head trauma, and intestinal obstruction/hernia due to adhesions from an abdominal stab wound. Spinal cord injuries resulted in paraplegia in 14 instances and quadriplegia in 8. The mean survival interval for paraplegics was 20.3 years and 14.8 years for quadriplegics; infections were a frequent immediate cause of death in both groups, particularly infections due to chronic bladder catheterization. The definition of proximate cause originated with civil law cases and was later applied to death certification as the proximate cause of death. The gradual extinction of the "year and a day rule" for the limitation of bringing homicide charges in delayed deaths may result in more of these deaths going to trial. Medical examiners/coroners must be able to explain the reasoning behind these death certifications and maintain consistent standards for the certification of all delayed deaths due to any injury (homicides, suicides, and accidents).
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PMID:Delayed homicides and the proximate cause. 1990 6


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