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Biomedical subjects

S W Moses

Publications and source records attributed to S W Moses.

At least 37 records · Page 2Linked to original sources
PubMed1988

Glycogen storage disease: recommendations for treatment.

A workshop was held on "Aspects of treatment of patients with glycogen storage disease" within the framework of the Concerted Action "Inborn errors of metabolism" of the European Communities. Consensus was reached on the main issues of treatment of patients with deficiency of glucose-6-phosphatase, glucose-6-phosphate translocase, debranching enzyme, liver phosphorylase and phosphorylase-b-kinase. The resulting recommendations are reported.

Adolescent↗
PubMed1988

Impaired carbohydrate metabolism of polymorphonuclear leukocytes in glycogen storage disease Ib.

This study measures hexose monophosphate (HMP) shunt activity, glycolytic rate, and glucose transport in PMN and lymphocytes of patients with glycogen storage disease (GSD) type Ib as compared with controls and with GSD Ia patients. HMP shunt activity and glycolysis were significantly lower in intact PMN cells of GSD Ib patients as compared with GSD Ia patients and with controls. These activities were above normal levels in disrupted GSD Ib PMN. HMP shunt activity and glycolytic rates in lymphocytes were similar in all three groups studied. The rate of 2-deoxyglucose transport into GSD Ib PMN was 30% of that into cells of normal controls. In GSD Ib lymphocytes or in GSD Ia PMN and lymphocytes transport was normal. The striking limitation of glucose transport across the cell membrane of the PMN of GSD Ib patients may account for the impairment of leukocyte function that is characteristic of GSD Ib, but not found in GSD Ia patients.

Adenosine Triphosphate↗
PubMed1987

Impaired glucose transport in polymorphonuclear leukocytes in glycogen storage disease Ib.

A study of 2-deoxyglucose transport into polymorphonuclear leukocytes (PMN) was performed in three patients with glycogen storage disease (GSD) type Ib. The rate of 2-deoxyglucose transport into GSD Ib PMN was 30% of that of cells of normal controls. In GSD Ib lymphocytes, transport was normal. Km for 2-deoxyglucose in the PMN of one patient was within the normal range. The reduced transport was not due to the elevation in Km for 2-deoxyglucose nor to the decreased rate of phosphorylation of 2-deoxyglucose. The striking limitation of glucose transport across the cell membrane may account for the impairment of leukocyte function which is characteristic of GSD Ib.

Antiporters↗
PubMed1987

An algorithmic approach to diagnosis of hypoglycemia.

An algorithm has been devised to facilitate the diagnostic approach to the causes of hypoglycemia. This systematic approach enables the physician to reach the final diagnosis in a logical way without subjecting the child to unnecessary and possibly hazardous investigations. The algorithm is based on the following measurements as required by each patient: concentrations of blood glucose, lactate, ketone bodies, and glucose-regulating hormones. These measurements are performed with the patient in the fasting state and after loading tests (glycerol and galactose) as needed. If indicated, an enzymatic test is performed to establish the final diagnosis. Eighteen children aged 1 month to 7 years who had persistent or recurrent hypoglycemia have been examined according to this algorithm. The correct diagnosis was arrived at in 17 patients. The diagnosis was not reached in one neonate who had glucose-6-phosphatase deficiency and initially did not have lactic acidosis; once lactic acidosis developed, his illness fitted perfectly into the algorithm.

Algorithms↗
PubMed1987

Myophosphorylase deficiency: the course of an unusual congenital myopathy.

A 59-year-old man had proximal weakness and wasting that started in early childhood. EMG was "myopathic," serum CK activity was increased, and muscle biopsy showed accumulations of glycogen. Biochemical studies revealed elevated glycogen concentration and absence of myophosphorylase activity. This unusual presentation of a long-standing, painless, and quite static weakness due to myophosphorylase deficiency represents another example of clinical heterogeneity.

Humans↗
PubMed1986

Neuromuscular involvement in glycogen storage disease type III.

Sixteen patients with glycogen storage disease type III (GSD III) aged 3 to 22 years underwent a detailed neuromuscular evaluation. A minimal impairment of skeletal muscle function was presented in eight patients, slight impairment in four and severe impairment in one patient. Serum creatinine phosphokinase (CPK) was elevated in all patients studied. In the nine patients, in whom electromyography (EMG) was performed; six exhibited a myopathic pattern while a "mixed" (neurogenic-myopathic) pattern was present in three. Muscle biopsies performed in 12 patients, revealed in all cases amylo-1,6,-glucosidase deficiency and biochemical as well as morphological evidence of glycogen accumulation. Two brothers suffered from late onset myopathy, which in the older sibling was associated with clinical, EMG and EM findings of a peripheral neuropathy. Fifteen patients had either electrocardiographic and or echographic evidence of cardiomyopathy. Observations based on this patient material suggest a widespread myopathy in GSD III patients with heterogeneous expression, while peripheral nerve involvement is rarely encountered.

Adolescent↗
PubMed1986

Adult muscle phosphorylase "b" kinase deficiency.

A 35-year-old man had severe exercise intolerance and cramps. Venous blood lactate did not rise after ischemic exercise, and electromyographically silent contracture of hand muscles appeared. Histochemistry and electronmicroscopy of a muscle biopsy revealed subsarcolemmal and intermyofibrillar accumulation of glycogen. Biochemical studies showed moderately increased amount of glycogen. Total phosphorylase activity was normal, but the active form "a" was 27% of normal. Phosphorylase kinase activity was 12% of the normal value and was normal in leukocytes and erythrocytes.

Adult↗
PubMed1985

Criteria map audit of scorpion envenomation in the Negev, Israel.

A criteria map audit is a medical record audit in which quality of care is evaluated according to algorithmically arranged criteria. Thus, a particular criterion is applied to the patient record only if other criteria have been met. For example, if a stung child's condition is severe but not life threatening and if he has had a positive skin test for antivenom sensitivity then he should receive antivenom only after receiving adrenaline and hydrocortisone. We used a modified criteria map audit to determine both the clinical picture of scorpion envenomation and quality of care process in 94 children. Related outcomes of care measured included mortality, persistent morbidity, allergic reaction to scorpion antivenom and length of stay in hospital. Scorpion stings in the Negev region are usually due to the yellow scorpion, L. quinquestriatus, and usually occur in the summer months on the extremities in exposed male children under 10. The clinical picture is more severe when the scorpion is yellow, when the child is younger and when the sting is on the trunk or head. Symptoms apparently mediated by the central nervous system (2.6 findings/child) were more frequent than parasympathetic symptoms (2.3 findings/child). Treatment with antivenom and specific therapy for complications led to very low persistent morbidity and mortality in symptomatic cases, but was also accompanied by a longer hospital stay (64% equal to or greater than 3 days) than for asymptomatic cases (18% equal to or greater than 3 days). Testing for antivenom sensitivity was omitted in an unacceptably high percentage of cases (69%) and its omission led to an allergic reaction in 4 out of 40 cases (10%). Inadequacy in treatment of 7 secondary clinical problems ranged from 71% for hypertension to 29% for seizures (mean 46%). Persistent morbidity was negligible and mortality was 1.2%. We conclude that criteria map audit can be used to describe the clinical and epidemiological picture of a clinical problem while at the same time providing an audit of the process of care.

Adolescent↗