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Biomedical subjects

B Z Garty

Publications and source records attributed to B Z Garty.

At least 55 records · Page 3Linked to original sources
PubMed1995

Helical hairs: a new hair anomaly in a patient with Netherton's syndrome.

A new hair shaft defect, helical hair, is presented. This hair abnormality was found to accompany trichorrhexis invaginata and pili torti in an infant with Netherton's syndrome. The patient's main clinical features included erythroderma since birth, failure to thrive, recurrent infections, hepatosplenomegaly, lymphadenopathy, eosinophilia, hypergammaglobulinemia, and high serum IgE levels. A possible mechanism for the formation of helical hair is reviewed.

Child, Preschool↗
PubMed1994

Placental transfer of immunoglobulin G subclasses.

The concentrations in cord blood of total immunoglobulin G (IgG) and the four subclasses of IgG were measured in 34 fetuses at a mean gestational age of 25 weeks (range, 18 to 35 weeks). The blood samples were obtained by percutaneous umbilical blood sampling, and results were compared with the respective IgG subclass concentrations of the mothers. The efficiency of transplacental transfer of the different IgG subclasses was determined. Transfer of IgG1 and IgG4 was found to be significantly more efficient than that of IgG3 and IgG2. IgG2 was the subclass least efficiently transferred from mother to fetus. These differences may partly explain the susceptibility of newborns to various pathogens, such as streptococcus group B.

Female↗
PubMed1994

Neurofibromatosis type 1 in Israel: survey of young adults.

Neurofibromatosis type 1 (NF1) (von Recklinghausen's disease) is one of the most common human autosomal dominant disorders. In a survey of 374440 17 year old Jewish recruits for military service, 390 cases of NF1 were discovered, with a prevalence of 1.04/1000 (0.94/1000 for males and 1.19/1000 for females), or two to five times the reported prevalence of this disease. NF1 was more common in youngsters whose parents were of North African and Asian origin (1.81/1000 and 0.95/1000, respectively) and less common in those of European and North American origin (0.64/1000). All these differences were statistically significant and may be partially explained by the more advanced parental age of the NF group (as suggested by the larger number of children in the North African and Asian families) or by founder effect or both. The height and weight of the NF1 subjects was significantly lower than those of the controls. The intelligence score of persons with NF1 was similar to that of the control group when corrected for gender and ethnic origin. No significant increase in epilepsy or mental illnesses was found. This study provides evidence of the high overall prevalence of NF1 among Jews in Israel, with significantly increased prevalence in certain ethnic groups.

Analysis of Variance↗
PubMed1994

Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome.

Three sibs born to consanguineous parents had congenital nephrotic syndrome, microcephaly, and psychomotor retardation. Pathology of the kidneys showed diffuse mesangial sclerosis with deposits of IgG and C3 in the mesangium and glomerular basement membranes. All three children died before the age of 3 years. Of 19 published cases of children with the association of congenital nephrotic syndrome and microcephaly, only four had histological evidence of diffuse mesangial sclerosis, and two of their sibs probably had the same disease. The association of nephrotic syndrome owing to congenital diffuse mesangial sclerosis, microcephaly, and mental retardation appears to be a distinct syndrome with an autosomal recessive mode of inheritance.

Abnormalities, Multiple↗
PubMed1994

Erythema multiforme and hypersensitivity myocarditis caused by ampicillin.

OBJECTIVE: To report a case of erythema multiforme and hypersensitivity myocarditis caused by ampicillin. CASE SUMMARY: A 13-year-old boy was treated with ampicillin and gentamicin because of suspected septicemia. Medications were discontinued when erythema multiforme and congestive heart failure caused by myocarditis occurred. The patient was treated with methylprednisolone and gradually improved. Macrophage-migration inhibition (MIF) test with ampicillin was positive. DISCUSSION: After most infections causing erythema multiforme and myocarditis were ruled out, a drug-induced allergic reaction was suspected. Positive MIF test for ampicillin showed sensitization of the patient's lymphocytes to ampicillin. CONCLUSIONS: Hypersensitivity myocarditis is a rare and dangerous manifestation of allergy to penicillins.

Adolescent↗
PubMed1994

Food allergy in infants and children: clinical evaluation and management.

A total of 122 infants and children up to age 17 (69 males and 53 females) who were referred for food allergy to the Pediatric Allergy and Clinical Immunology Unit were evaluated by complete history, emphasizing the implicated foods, clinical presentation and involvement of various organ systems, physical examination, and prick skin tests to food allergens. Fourteen infants with a history of egg white allergy and positive skin tests to egg white also underwent skin tests (prick and intradermal in 1:100 dilution) to measles-mumps-rubella (MMR) vaccine; 35 children under 3 years old had 41 oral challenges with the suspected foods; and 9 children over 3 years old had 12 oral challenges with the suspected foods. We found that cow milk/humanized milk formula, egg white, soybean, and peanut are the main allergenic foods in the pediatric population. Thirteen children had 13 positive oral challenges: 12 to cow milk/humanized milk formula and one to egg white. Symptoms reproduced by oral challenges included urticarial and erythematous rash, conjunctival itching, angioedema, abdominal pain, vomiting, diarrhea, and rhinorrhea. No anaphylactic shock was reported. Negative skin test has an excellent predictive accuracy for negative oral challenge with the suspected food in children > 3 years old. The negative predictive accuracy of cow milk skin test in children < 3 years was 73%. Positive skin test is not a good predictor of a clinical reaction to food. Oral food challenge performed cautiously in a medical setting is the "gold standard" for diagnosis. MMR vaccine can be safely administered to infants with egg white allergy after skin tests with the vaccine are performed.

Administration, Oral↗
PubMed1994

Hearing impairment in idiopathic hypoparathyroidism and pseudohypoparathyroidism.

Sensorineural hearing impairment is a lesser known feature of hypoparathyroidism. The hearing of 20 patients with idiopathic hypoparathyroidism was investigated by pure-tone audiometry. Bilateral sensorineural hearing loss was found in three (15%). Sensorineural hearing loss is considered to be associated with a prolonged low calcium level in the inner ear fluid and is a possible complication of hypoparathyroidism.

Adolescent↗
PubMed1994

Benign transient hyperphosphatasemia.

Benign transient hyperphosphatasemia (BTHP) was diagnosed in nine children who were examined in the Pediatric Department at Beilinson Medical Center during 2 years. The characteristic features of this disorder are: a) elevation of serum alkaline phosphatase (AP) of 3-50 fold the upper normal value for age, usually discovered during mild upper respiratory or gastrointestinal infection, and sometimes by routine laboratory workup; b) no clinical or laboratory evidence of bone or liver disease; c) the elevated AP is of liver and bone origin; and d) AP returns to normal range within 12 weeks. BTHP usually occurs in infants but may appear also in adults. Recognition of this benign entity will prevent extensive unnecessary laboratory workup.

Acute Disease↗
PubMed1993

Impairment of calcium mobilization in phagocytic cells in glycogen storage disease type 1b.

Patients with glycogen storage disease (GSD) type 1b, in contrast to patients with GSD 1a, are susceptible to recurrent bacterial infections suggesting defective phagocytic function. We have demonstrated a selective defect in respiratory burst activity but not in degranulation by phagocytic cells in GSD 1b but not in GSD 1a. The respiratory burst abnormality in phagocytic cells from GSD 1b patients was associated with impaired calcium mobilization, whereas these processes were normal in GSD 1a patients. Therefore, the alteration in calcium mobilization was an indication of a signalling defect in phagocytic cells from GSD 1b. However, calcium mobilization was normal in lymphocytes, indicating that defective calcium mobilization was not a global finding in circulating leukocytes, but was specific to phagocytic cells. Calcium mobilization in response to ionomycin was reduced suggesting decreased calcium stores in GSD 1b neutrophils. Therefore, altered phagocytic cell function in GSD 1b patients appears to be associated with diminished calcium mobilization and defective calcium stores. This defective calcium signalling was associated with a selective defect in respiratory burst activity but not degranulation.

Calcium↗
PubMed1993

A randomized, double-blind study comparing cefixime and trimethoprim-sulfamethoxazole in the treatment of childhood shigellosis.

We compared the clinical and bacteriologic response of 5-day treatment with cefixime, 8 mg/kg per day, with the response to trimethoprim-sulfamethoxazole (TMP-SMX), 10-50 mg/kg per day, the currently recommended therapy. Of the assessable children with acute, culture-proven shigellosis, 38 received cefixime and 39 received TMP-SMX. Pretreatment data on the two study groups were similar. In the first group, all isolates were susceptible to cefixime; in the TMP-SMX group, 32 isolates were resistant and 7 were susceptible to TMP-SMX. Clinical response (day 5) showed cure, improvement, and failure in 89%, 8%, and 3%, respectively, of the cefixime group, and in 25%, 44%, and 31%, respectively, of the TMP-SMX-resistant group (p < 0.001). Bacteriologic cure (day 3) occurred in 78% and 23% of the cefixime and TMP-SMX-resistant groups, respectively (p < 0.001). Clinical or bacteriologic relapse (day 12) was infrequent in both groups. The response to treatment of the cefixime and the TMP-SMX-susceptible groups was similar. No significant side effects were noted. We conclude that cefixime is superior to TMP-SMX in the treatment of suspected shigellosis in areas with a high rate of resistance to TMP-SMX.

Adolescent↗
PubMed1993

Radionuclide scrotal imaging in anaphylactoid purpura.

Tc-99m pertechnetate radionuclide scrotal scanning was performed on nine hospitalized boys with anaphylactoid purpura and acute scrotal tenderness. Scrotal involvement in anaphylactoid purpura is generally a part of the basic pathological process (i.e., vasculitis). Sometimes testicular torsion could not be excluded by physical examination. Tc-99m radionuclide scan was proven to be a useful tool, enabling distinction between the two processes. In all the patients the scan showed increased flow to the scrotum, compatible with inflammation of the scrotal wall and normal testicular perfusion, ruling out testicular torsion. All the boys were treated conservatively, with rapid resolution of the scrotal symptoms.

Child↗
PubMed1993

Risk of infection during adrenocorticotropic hormone treatment in infants with infantile spasms.

We reviewed the clinical features and laboratory findings of 27 infants with infantile spasms treated with adrenocorticotropic hormone or prednisone during febrile episodes in order to evaluate the incidence of bacteremia, the risk of serious infection, determination of whether serious infections can be identified at presentation and the outcome of febrile episodes. There were 75 febrile episodes including 4 episodes of identified bacteremia (5.3%). Three children who were treated with adrenocorticotropic hormone dosage larger than recommended died. Leukocytosis and a differential count with many immature granulocytes predicted bacteremia in this population. Chest radiography was useful in identifying the cause of fever. The pathogens isolated were similar to those found in this age range. We conclude that the frequency of bacteremia in our patient population is similar to that observed in infants of the same age; however, the outcome is frequently fatal. In addition this increased mortality may be associated with the use of a larger dosage of adrenocorticotropic hormone than recommended.

Adrenocorticotropic Hormone↗
PubMed1993

Systemic meningococcal infections in patients with acquired complement deficiency.

Congenital deficiency of the late components of the complement may predispose the individual to systemic meningococcal infection. Assuming that patients with acquired complement deficiencies may also have an increased risk of contracting meningococcal infections, a retrospective and prospective study to assess this association was conducted. Over 20 years (1970-1989), 30 patients with meningococcemia or meningococcal meningitis, proven by blood or CSF culture, were treated at the Beilinson Medical Center. Only one patient died of the infection. Risk factors were found in three patients (10%). One had a congenital deficiency of C7, and two had acquired complement deficiency due to systemic lupus erythematosus (SLE) and membranoproliferative glomerulonephritis (MPGN). These latter two patients had low serum concentration of C3 and C4 and reduced complement hemolytic activity before onset of the infection. Since the incidence of culture-proven systemic meningococcal infection in the Jewish population in central Israel is 1/100,000, and the prevalence of SLE and MPGN is, at most, 250/100,000, the finding of two patients with meningococcal infection and these rare disorders is over 100 times the expected incidence. We conclude that patients with acquired complement deficiency are at significant risk of meningococcal infection.

Adolescent↗