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Biomedical subjects

S Hertz

Publications and source records attributed to S Hertz.

14 recordsLinked to original sources
PubMed2000

No evidence for a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

Juvenile myoclonic epilepsy (JME) is a distinct epileptic syndrome with a complex mode of inheritance. Several studies found evidence for a locus involved in JME on chromosome 6 near the HLA region. Recently, Elmslie et al. [1997] reported evidence of linkage in JME to chromosome 15q14 assuming a recessive mode of inheritance with 50% penetrance and 65% linked families. The area on chromosome 15q14 encompasses the location of the gene for the alpha-7 subunit of the nicotinic acetylcholine receptor. This could fit the hypothesis that there are two interacting loci, one on chromosome 6 and on chromosome 15 or that there is genetic heterogeneity in JME. In an independent dataset of JME families, we tested for linkage to chromosome 15 but found little evidence for linkage. Moreover, families with more than one family member affected with JME provide a lodscore of 3.4 for the HLA-DR/DQ haplotype on chromosome 6. The lodscore for these same families on chromosome 15q14 is <-2 assuming homogeneity and the maximum lodscore is 0.2 assuming alpha =.25. Only one of these families has a negative lodscore on chromosome 6 and a positive lodscore of 0.5 on chromosome 15q14. Our results indicate that this possible gene on chromosome 15 plays at most a minor role in our JME families. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:49-52, 2000.

Chromosome Mapping↗
PubMed1999

Mixed-type encephalopathies: preliminary considerations.

This preliminary report deals with a polyetiological and pathophysiologically multifacted encephalopathy that is fairly common and yet in need of identification as a clinical (but not nosological) entity: Mixed-Type Encephalopathy (MTE). MTE is a mostly acute condition, characterized by change of mentation (confusion, delirium, etc.) with little or no neurological deficit but with impressive diffuse EEG slowing. A variety of medical conditions lead to MTE, especially at an age above 50 years, but status-post-surgery (leaving aside cranial neurosurgery, but also cardiac surgery in view of common embolic cerebral pathology) may also result in MTE, especially with the use of general anesthesia. An attempt is made to analyze the plethora of contributory factors and underlying pathophysiological mechanisms. All types of classical brain pathology such as strokes, meningitis-encephalitis and typical metabolic encephalopathies (hepatic, renal, etc.) and others must be excluded from the diagnosis of MTE. Special emphasis is being placed on behavioral and EEG criteria in the early state of impaired consciousness with subdivision into 4 types: obtundation, somnolence, morbid lethargy and delirium. Cases of MTE are best picked up by an interdepartmental consultation (liaison) service making use of neurological consultations and EEG assessment. The value of the latter cannot be overestimated in these cases, especially in view of the very limited contributions of neuroimaging methods. The prognosis tends to be good. Severe and fatal developments are usually due to intervening cerebral hypoxia or anoxia. In such a development, epileptic manifestations, which are usually absent or mild in MTE, can become quite prominent. A thorough multi-institutional and international study of MTE is already in the planning stage. It is hoped that preventive measures can minimize the cerebral complications.

Acute Disease↗
PubMed1999

Slow sharp waves.

Slow sharp waves (SSHW) are of longer duration (around 200 msec and longer) than typical sharp wave discharges (70 to 200 msec). This pattern is not merely of academic interest, as the electroclinical correlation showed that SSHW were found in 23 patients, mostly above age 50 years, with serious illnesses of various etiologies. Epileptic seizures occurred in a minority of the cases. The electrophysiological basis remains unclear and there is no answer to the question, "what causes the relatively long duration of these discharges?"

Adolescent↗
PubMed1998

Chondrosarcoma of the aorta: a rare source of bowel and lower extremity emboli.

Malignant aortic tumors occur infrequently. At least 70 cases of primary aortic malignancies have been reported in the literature. Within this group, chondrosarcoma is exceedingly rare, with only 1 case having been reported. An aortic chondrosarcoma developed in our patient and embolized to the small bowel and lower extremities. Although initially thought to arise from the abdominal aorta, this tumor, in fact, originated from the thoracic aorta. This case illustrates the need for complete aortic imaging when unexplained recurrent embolization occurs. In general, the survival rates with chondrosarcoma are diminished, but this patient survived 69 months after he was initially seen.

Aged↗
PubMed1997

The metabolic responses to starvation and refeeding in adolescents with anorexia nervosa.

Adaptive changes in metabolism result in decreased energy requirements in AN. A retrospective study of 21 hospitalized female AN patients demonstrated that indirect calorimetry (IC) measurement of resting energy expenditure (REE) was significantly lower than REE calculated by the Harris-Benedict equation (HBE). The HBE was adjusted by multiple-regression analysis to reflect the hypometabolic state of AN, and the adjusted equation was prospectively validated in 37 hospitalized female AN patients. Refeeding requires an understanding of both baseline requirements and metabolic changes that occur during nutritional rehabilitation. In our present study, we prospectively evaluated changes in fasting and postprandial REE in 50 hospitalized female patients meeting DSM-IV criteria for AN. Baseline IC measurements of fasting and postprandial REE were obtained within three days of admission, and every two weeks thereafter. Mean fasting REE increased significantly from 72 (+/-11.7) to 83.2 (+/-12.6) percent of predicted (p < 0.001) during the first two weeks of hospitalization. Likewise, postprandial REE also increased significantly from 17.5 (+/-18.2) to 27.9 (+/-15.9) percent above fasting REE during the same time period (p < 0.01). Significant increases in both REE and postprandial REE persisted in patients requiring longer hospitalizations. Despite the fact that prescribed energy intake and triiodothyronine (T3-RIA) levels increased during refeeding, there was no significant relationship between postprandial REE and energy intake or T3 levels after baseline. We conclude that energy metabolism in AN adapts to semistarvation by a reduction in fasting REE. With refeeding there is a reversal of this adaptive function, demonstrated by an increase in both fasting and postprandial energy expenditure. The increase in postprandial REE is not related to energy intake or thyroid function.

Adolescent↗
PubMed1996

Cardiac arrest caused by trigeminal neuralgia.

A 67-year-old man with a 12-year history of trigeminal neuralgia experienced multiple fainting episodes preceded by right facial pain. One episode resulted in cardiac arrest with successful resuscitation. Pacemaker insertion prevented further episodes of syncope despite the occurrence of pain. The fainting episodes and cardiac arrest are believed to be unusual manifestations of trigeminal neuralgia.

Aged↗
PubMed1995

Indirect calorimetry in the nutritional management of eating disorders.

The caloric prescription, a key component of the nutritional therapy of anorexia nervosa (AN) and bulimia nervosa (BN), may be empirically prescribed, or based on predicted resting energy expenditure (REE), yet adaptive changes in the metabolic rate may render both methods unreliable. Indirect calorimetry measurement of fasting REE was obtained in 32 patients with AN (n = 21) or BN (n = 11). Predicted REE was calculated according to the Harris-Benedict equation, and empiric caloric prescriptions were made by experienced physicians. In the AN group, mean measured REE was significantly lower than predicted REE (p = .00). The empiric caloric prescription was, as intended, significantly higher than the measured REE, but the two methods correlated significantly (r = .53, p < .05). The predicted REE overestimated caloric needs but was also highly correlated with measured REE (r = .69, p < .001). By regression analysis, measured REE could be calculated from predicted REE as follows: measured REE (Kcal/day) = (1.84 x Harris-Benedict predicted REE) - 1,435. In the BN group, mean measured REE was not significantly different from the empiric caloric prescription (p = .09) but was significantly lower than the Harris-Benedict predicted REE (p = .022). Neither correlated with measured REE in BN. Therefore, in BN indirect calorimetry is the only reliable method for determining caloric needs. In AN indirect calorimetry remains the preferred method, but when not available, we recommend the above equation to determine resting energy requirements.

Adolescent↗
PubMed1995

[Munchausen syndrome by proxy].

Munchausen Syndrome by Proxy (MSbP) in children is a form of child abuse in which a parent (usually the mother) or other care-taker feigns or fabricates disease symptoms in the child, often to the extent of causing serious physical harm, sometimes even resulting in death. Even if the child does not suffer actual physical harm, there is great danger that his or her social and mental development may be jeopardized. Health care personnel risk becoming party to the abuse through exposing the child to unnecessary medical procedures. A case of MSbP involving two siblings is presented in the article, together with a brief summary of current knowledge of the syndrome and measures for its management, emphasising the necessity of close cooperation between paediatrician, child psychiatrist and the social services.

Adult↗
PubMed1994

Event-related potentials to faces: the effects of priming and recognition.

Short-term visual memory, as in both implicit priming and explicit recognition tasks, can be demonstrated by decreased reaction times, the ability to preferentially select previously presented objects from lists and the ability to more readily complete previously exposed words from fragmented letters. The visual processing of faces occurs separately from the visual processing of non-face stimuli, within discrete areas of bilateral posterior inferotemporal cortices. While visual recognition and memory of faces are independent of those for non-faces, their processing appears to be similar. We have demonstrated an electrophysiologic correlate of short-term visual memory in a face-matching paradigm. We have observed a series of evoked potential components consisting predominantly of a C140, C180 and C240 with a posterior, bitemporal distribution. The priming effect is reflected by a diminution of C240 amplitude in the response to repeated pictures of faces compared to novel pictures of faces. These data reflect a previously unreported set of neurophysiological observations on short-term visual memory for faces.

Adult↗
PubMed1994

Rate of weight gain of inpatients with anorexia nervosa under two behavioral contracts.

OBJECTIVE: To ascertain the rate of weight gain of inpatients with anorexia nervosa under two behavioral contracts, differing in criterion weight gain required to earn increasing privileges. DESIGN: Follow-up comparison of cohorts receiving different interventions. SETTING: Eating disorders service, operating on a general adolescent medicine unit. PATIENTS: Patients admitted consecutively who met the following criteria: (1) weight at least 15% less than that expected for age, sex, and height; (2) female gender; (3) absence of chronic medical illness; (4) hospital stay of at least 28 days. Twenty-two patients meeting these criteria were treated between July 1987 and October 1988, when contract 1 was in effect. This cohort of patients was compared with a group of 31 patients, also meeting the these criteria, who were treated between November 1988 and December 1991, when contract 2 was in effect. INTERVENTIONS: The behavioral contract, signed by the patient on admission, specifies the minimum 4-day weight gain necessary to earn increasing ward privileges, such as use of phone, frequency of visits, etc. Contracts 1 and 2 differed only in the 4-day weight gain criterion: 0.8 lb (0.36 kg) and 1.2 lb (0.55 kg), respectively. RESULTS: The results of analysis of covariance, with admission weight as the covariate, revealed a significant interaction between contract and day, such that patients receiving contract 2 gained weight more rapidly (0.36 lb/d) than those receiving contract 1 (0.20 lb/d). There was no confounding difference between groups in the use of psychotropic medication, and no complications of refeeding in either group. CONCLUSION: Increasing the 4-day criterion weight gain from 0.8 to 1.2 lb in a behavioral contracting intervention was associated with a significant increase in the rate of weight gain, without an accompanying increase in complications of refeeding. This result simultaneously: (a) provides support for the efficacy of behavioral contracting and (b) reveals malleability in the rate of gain based on the targeted gain specified in the contract.

Adolescent↗
PubMedDate not supplied

[Primary hyperparathyroidism. Round calcification as a sign of cervico-mediastinal localization of a parathyroid adenoma].

The authors report the case of a man aged 59 years, with primary hyperparathyroidism; removal of a first adenoma, did not lead to recovery. Later, an egg-shell calcification was found together with a second large cervico-mediastinal parathyroid adenoma, the removal of which caused all the symptoms to disappear. After a review of other cases in the world literature with calcification of the parathyroid glands, the authors consider, before using more complicated techniques for preoperative localisation of parathyroid adenomas, one should carry out careful radiological examination of the cervical and mediastinal region. Under these conditions, one may detect significant calcifications which have escaped routine examination and may contribute to the topographic diagnosis of the parathyroid lesion sought.

Adenoma↗