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Biomedical subjects

D Karch

Publications and source records attributed to D Karch.

At least 19 recordsLinked to original sources
PubMed2006

The National Violent Death Reporting System: an exciting new tool for public health surveillance.

The US does not have a unified system for surveillance of violent deaths. This report describes the National Violent Death Reporting System (NVDRS), a system for collecting data on all violent deaths (homicides, suicides, accidental firearms deaths, deaths of undetermined intent, and deaths from legal intervention, excluding legal executions) in participating states. The NVDRS centralizes data from many sources, providing a more comprehensive picture of violent deaths than would otherwise be available. The NVDRS collects data on victims, suspects, and circumstances related to the violent deaths. Currently, 17 US states participate in the NVDRS; the intention is for the NVDRS to become a truly national system, representing all 50 states, the District of Columbia, and the US territories. This report describes the history of the NVDRS, provides an overview of how the NVDRS functions, and describes future directions.

Centers for Disease Control and Prevention, U.S.↗
PubMed2000

Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy.

A man was identified with two X-chromosomal neuromuscular disorders, X-linked Charcot-Marie-Tooth disease (CMTX) and Becker muscular dystrophy (BMD). The neuropathy could be tracked in the family and was found to be caused by a mutation in the connexin32 gene on Xq13. 1. The muscular dystrophy was sporadic owing to a de novo deletion in the dystrophin gene located in band Xp21.2. Although these genetic alterations of the same X-chromosome are considered as physically independent, their combination resulted in a unique phenotype with severe wasting of proximal as well as distal muscles and rapid progression of both conditions.

Adult↗
PubMed1999

X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

The sensorimotor neuropathy of the Charcot-Marie-Tooth type (CMT) is the most common hereditary disorder of the peripheral nervous system. The X-linked dominant form of CMT (CMTX) is associated with mutations in the gene for the gap junction protein connexin32. We examined four CMTX pedigrees two of which had potentially novel mutations in the only coding exon of connexin32. One previously unreported missense mutation, Ala39Val, was found in a family displaying a CMT phenotype with additional upper limb postural tremor reminiscent of a Roussy-Lévy syndrome. A novel single base insertion, 679insT, is among the first mutations found in the fourth transmembrane domain of connexin32. Frameshift and premature stop of translation are supposed to result in a non-functional carboxy-terminus. Two further families had the known missense mutations Arg15Trp and Arg22Gln. Several female carriers were found normal on clinical presentation, however, the genotype was paralleled by decreased nerve conduction velocities (NCV) and slowed central conduction of brain stem auditory evoked responses (BAER). Median motor NCVs showed mild (in women) to intermediate (in males) reduction, indicating a peripheral neuropathy with a predominating axonal component. Nerve biopsy findings were consistent with the electrophysiological data showing a marked loss of large myelinated fibres and clusters of regenerating axons. Electron microscopy revealed various alterations of the axoglial attachment zone. This suggests defective axon-Schwann cell interactions which may induce the axonopathy in CMTX.

Adolescent↗
PubMed1984

Prognostic significance of polygraphic recordings in newborn infants on ventilation.

In a prospective study, 79 preterm and fullterm newborn infants who had been on assisted ventilation for at least five days were recorded polygraphically between the fifth and eighth day of life. 73 were still intubated and on assisted ventilation at the time of recording. 61 of the infants were again recorded polygraphically between 14 and 34 days after birth. The findings of both first and second recordings correlated with psychomotor development up to one year, or with postmortem examinations. The first recordings were highly significant to the prognosis, especially for infants whose gestations were more than 33 weeks. The second polygram showed a similar correlation with later development. Neurological examinations were performed on the same day as the first polygraphic recording: they were less significant prognostically for the preterm infants compared with polygraphic findings, and of no prognostic significance for the fullterm infants.

Brain Damage, Chronic↗
PubMed1982

[Hypoxia during the perinatal period and the formation of cerebral lesions].

The degree of hypoxia and the cerebral blood flow are of outstanding importance in the pathogenesis of cerebral damage due to perinatal hypoxia. Nevertheless many other factors influence origin, extension and localisation of cerebral damage. An acute total ischemia results especially in disorders of brainstem, inferior colliculi and thalamic nuclei while the most frequent type, the partial ischemia, manifests in cortical regions. In immature newborn infants, posthypoxic lesions are usually located periventricular, in mature infants, cortically. Brain edema preferentially occurring in mature infants damages CNS additionally. This danger is enhanced by supplementation of glucose before hypoxia resulting in accumulation of even more lactic acid. Intracerebral hemorrhages predominantly occur in immature infants. One speculates that they are caused by rupture of thin capillary walls of germinal matrix. Due to impaired autoregulation of cerebral blood flow after perinatal hypoxia, these vessels are exposed to every change of arterial blood pressure. Therefore therapy of metabolic acidosis and posthypoxic circulatory insufficiency may contribute to intracerebral hemorrhage too.

Acidosis↗
PubMed1982

Behavioural changes and bioelectric brain maturation of preterm and fullterm newborn infants: a polygraphic study.

Fifty-two preterm and fullterm infants requiring assisted ventilation were observed and examined polygraphically. In addition, 24 preterm infants without prenatal or perinatal complications and not needing assisted ventilation were examined polygraphically in order to validate a special method of differentiating sleep states and sleep cycles. State criteria were EEG records, eye movements and gross body movements. Using this evaluation method, all 14 low-risk preterm infants showed stable sleep states and cycles, as did 16 of 23 high-risk preterm and 10 of 15 high-risk fullterm infants. 11 high-risk preterm and fullterm infants were found to have extremely unstable sleep states, or were comatose. The EEG could not be evaluated in only one case. Infants requiring assisted ventilation showed the following changes in comparison with the infants who did not need ventilation: the percentage of quiet sleep increased significantly; the percentage of indeterminate sleep increased as a sign of more unstable behaviour; and the individual measurements of the recorded and observed variables showed wider variability. Bioelectric brain maturation decreased significantly with increasing risk among both preterm and fullterm infants given assisted ventilation.

Behavior↗
PubMed1981

[The prognostic significance of determining bioelectric brain maturity in newborn infants with perinatal complication (author's transl)].

92 infants were studied in order to determine the prognostic value of bioelectric brain maturity assessment during newborn period. Psychomotor development was followed up until infants were at least one year old. Infants with abnormal follow-up examination findings showed a statistically significant retardation of "EEG-maturity" in comparison with infants who developed normally. The more unfavourable the psychomotor development was, the more immature was the EEG-pattern. The prognosis of 6 infants whose "EEG-maturity" was extremely retarded (= 4 weeks immature) was severe; their follow-up examination revealed either definite pathological findings or severe cerebral damage. All newborns whose abnormal electroencephalogram recording did not allow assessment of "EEG-maturity" developed severe cerebral damage. Comparing the prognostic value of risk factors with the bioelectric brain maturity the last method proved to be more valuable. Especially in infants with perinatal hypoxia this method showed the highest prognostic value.

Brain Damage, Chronic↗
PubMed1981

[Moyamoya like vascular disease in tuberous sclerosis (author's transl)].

A 12 years and 8 months old girl with tuberous sclerosis developed focal motor and sensory seizures and hemiplegias initially right-sided and later left-sided. Cerebral angiography showed bilateral and symmetrical vascular network with teleangiectasias in the region of the basal ganglia and bilateral stenoses and ectasias of the middle cerebral artery. It is discussed whether this is a case of atypical Moyamoya disease or whether the bilateral basal networks are blood vessel dysplasias and part of the neurocutaneous phakomatosis.

Arterial Occlusive Diseases↗
PubMed1977

Perinatal hypoxia and bioelectric brain maturation of the newborn infant.

Bioelectric brain maturation of twenty infants who had suffered acute perinatal hypoxia (patients) was compared with that of twenty healthy newborns (controls). None of the patients had suffered any other pre- or perinatal complications that could have influenced the bioelectric brain maturation. All infants (postmenstrual age: 40--42 weeks) were subjected to a polygraphic recording. The patients were examined after the acute phase of their disease; all were in good clinical condition at the time of recording. Statistic evaluation revealed significantly retarded bioelectric brain maturation in the patient group. Furthermore, a more immature EEG pattern was found to correspond to greater extent of oxygen deprivation. The study shows: determination of bioelectric brain maturation can be used to obtain information about suffered hypoxia and extent of oxygen deprivation.

Electroencephalography↗
PubMed1977

[Early diagnosis of severe brain damage of premature and newborn infants under intensive care. A polygraphic study (author's transl)].

24 premature and newborn infants under intensive care (intubation and artificial respiration) were subjected to a polygraphic examination in order to diagnose severe brain damage already in the acute stage of a disease. The results collected in the polygraphic recording were correlated to the further development and progress of the infant. Nine infants die within one week--all of these underwent a post-Mortem examination. Diagnosis of brain damage was confirmed by post-mortem examination or by a clinical neurological follow-up examination. All infants with severe brain damage showed pathological polygraphic recordings. In contrast to this, clinical neurological examination at the time of the polygraphic recording did not reveal such pathological results in all of these infants. Important was the EEG, supplemented by determining the bioelectric brain maturation, the differentiation of sleep states and the correlation of these derived parameter to the behavior pattern of the infant. The heart rate frequency and variability could not be used to make an useful diagnostic statement.

Acute Disease↗
PubMed1976

[Differential diagnostic problems resulting from massive doses of vitamin D and suspected pituitary dwarfism in the father of a child with vitamin-D-resistant rachitis (author's transl)].

A 1.8-year-old female child with retarded statomotor development and growth was reported. Radiologically and chemically, a rachitis was found which clearly improved following administration of 600,000 U. vitamin D3. Examination of the father who was thought to be suffering from pituitary dwarfism revealed hypophosphatemia and radiologic signs of osteomalacia. The diagnosis of a hypophosphatemic vitamin-D-resistant rachitis in this child could only be established with certainty during the course of the following months.

Adult↗