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Biomedical subjects

H Hurvitz

Publications and source records attributed to H Hurvitz.

At least 19 recordsLinked to original sources
PubMed2005

Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency.

BACKGROUND: POU1F1, a pituitary-specific transcription factor of the class 1 POU family, is crucial for the development and differentiation of the anterior pituitary gland. Mutations in the POU1F1 gene have been shown to be responsible for a syndrome of combined pituitary hormone deficiency (CPHD), including prolactin, growth hormone and thyroid-stimulating hormone deficiencies. METHODS: Five patients with CPHD from three families were evaluated. The clinical and biochemical data were taken from the medical records. DNA was analyzed by polymerase chain reaction (PCR), denaturing gradient gel electrophoresis (DGGE), and sequencing. RESULTS: Molecular analysis yielded three novel mutations in POU1F1: W193X, Q242R (-2 bp), and F262L. CONCLUSIONS: Three novel POU1F1 mutations were detected in Israeli patients with CPHD. Two of them, a W193X missense mutation and a deletion of two adenine bases at position 242Q, may lead to the production of a truncated protein that lacks the entire POU homeodomain or part of it, respectively. The third mutation, F262L, resides in the POU homeodomain and hence might change the activity of the protein.

Arginine↗
PubMed2004

Rasmussen encephalitis with active inflammation and delayed seizures onset.

Severe focal epilepsy is regarded as a clinical hallmark of Rasmussen encephalitis (RE). The authors report two children with progressive hemiparesis, contralateral hemispheric atrophy, and pathologic features characteristic for RE. At histologic diagnosis and over several months, neither patient experienced seizures. The report enlarges the clinical spectrum of RE and suggests that seizures are not an obligatory presenting symptom of the disorder.

Age of Onset↗
PubMed2001

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.

Deficiencies in the pathway of N-glycan biosynthesis lead to severe multisystem diseases, known as congenital disorders of glycosylation (CDG). The clinical appearance of CDG is variable, and different types can be distinguished according to the gene that is altered. In this report, we describe the molecular basis of a novel type of the disease in three unrelated patients diagnosed with CDG-I. Serum transferrin was hypoglycosylated and patients' fibroblasts accumulated incomplete lipid-linked oligosaccharide precursors for N-linked protein glycosylation. Transfer of incomplete oligosaccharides to protein was detected. Sequence analysis of the Lec35/MPDU1 gene, known to be involved in the use of dolichylphosphomannose and dolichylphosphoglucose, revealed mutations in all three patients. Retroviral-based expression of the normal Lec35 cDNA in primary fibroblasts of patients restored normal lipid-linked oligosaccharide biosynthesis. We concluded that mutations in the Lec35/MPDU1 gene cause CDG. This novel type was termed CDG-If.

Amino Acid Sequence↗
PubMed2000

Muscular carnitine palmitoyltransferase II deficiency in infancy.

An 8-month-old female presented with febrile myoglobinuria. The activity of carnitine palmitoyltransferase (CPT) II was decreased to 16% of the control mean, and the oxidation of the long-chain fatty acids was reduced to 25% of the mean in the fibroblasts. Homozygosity for the common mutation, S113L, was identified in the CPT II gene. Residual CPT II activity of more than 10% of the mean and homozygosity for the common mutation S113L are usually associated with a milder reduction of long-chain fatty acid oxidation to about 80% of the control and with a later age of clinical onset. The early clinical presentation in the present patient is unique and was associated with a marked impairment of long-chain fatty acid oxidation, possibly because of other genetic factors. CPT II deficiency should be included in the differential diagnosis of isolated myoglobinuria in infancy.

Carnitine O-Palmitoyltransferase↗
PubMed2000

The clinical course of bronchiolitis associated with acute otitis media.

BACKGROUND: Acute otitis media (AOM) is the most common bacterial co-infection of viral bronchiolitis. AIMS: To evaluate the influence of AOM on the clinical course of bronchiolitis. SUBJECTS: 150 children younger than 24 months old, diagnosed with bronchiolitis, hospitalised between December 1997 and May 1999. METHODS: Body temperature, respiratory rate, oxygen saturation, and the need for oxygen supplementation were recorded on admission and daily throughout hospitalisation. Complete blood count, erythrocyte sedimentation rate, and assay for respiratory syncytial virus were performed on admission. All children were examined daily for the appearance of AOM. The clinical course of children with bronchiolitis and AOM was compared to those without AOM. RESULTS: AOM was diagnosed in 79/150 (53%) children with bronchiolitis. Most were diagnosed within the first two days of hospitalisation. No significant difference was found in the clinical and laboratory findings on admission and on daily follow up between children with and without AOM. CONCLUSIONS: This 2.5 year prospective study showed no difference in the course of bronchiolitis, whether an ear infection was present or not.

Acute Disease↗
PubMed2000

Hepatitis A associated with other focal infections.

BACKGROUND: Concomitant bacterial and viral infection is a well-known phenomenon, however only very rarely has a bacterial infection been reported during hepatitis A virus infection. OBJECTIVE: To evaluate retrospectively the clinical records of children hospitalized with HAV infection for a concomitant infection proved or presumed to be bacterial. METHOD: A retrospective study was conducted on all the children hospitalized with hepatitis A infection from 1988-96 in our center. The records were evaluated for a concomitant infection. RESULTS: Of 40 children hospitalized with HAV infection, 13 were found to have a concomitant infection: these included 6 with pneumonia, 4 with pyelonephritis and 1 case each of purulent otitis media, osteomyelitis and staphylococcal bacteremia. CONCLUSION: In areas where hepatitis A is endemic, a simultaneous infection with hepatitis A and other common bacterial infection during childhood may co-exist. A permissive role for HAV infection is suggested.

Bacterial Infections↗
PubMed1998

Treatment with hypertonic saline versus normal saline nasal wash of pediatric chronic sinusitis.

BACKGROUND: Chronic sinusitis (CS) is a common disease in children, especially those with allergies, that is caused by impaired drainage from the sinuses. Hypertonic NaCl solution has been shown to increase mucociliary clearance and ciliary beat frequency. OBJECTIVE: We performed a randomized double blind study to compare the effect of nasal wash with hypertonic saline (HS) (3.5%) versus normal saline (NS) (0.9%) on CS. METHODS: Thirty patients with CS aged 3 to 16 years were studied. They were randomly divided into two treatment groups matched by age and severity of the disease. Each individual was treated with either HS or NS for 4 weeks. All patients were evaluated by two clinical scores (cough and nasal secretions/postnasal drip [PND]) and by a radiology score at the beginning of the study and after 4 weeks. RESULTS: The HS group improved significantly in all scores (average +/- SD): cough score, from 3.6 +/- 0.51 to 1.6 +/- 0.74; nasal secretion/PND score, from 2.86 +/- 0.35 to 1.6 +/- 0.74; and radiology score, from 8.06 +/- 1.28 to 2.66 +/- 1.04. The NS treatment group showed significant improvement only in the PND score (from 2.66 +/- 0.49 to 1.53 +/- 0.83) but no significant change in both the cough score (from 3.53 +/- 0.52 to 3.33 +/- 0.49) and the radiology score (from 8.13 +/- 1.25 to 7.86 +/- 0.91). Clinical observation 1 month after the end of the study showed no change compared with the end of the study in both groups. CONCLUSION: HS nasal wash is an efficient treatment of CS.

Adolescent↗
PubMed1998

Gallbladder and pancreatic involvement in hepatitis A.

Gallbladder (GB) abnormalities are rarely reported in children, but involvement of the GB has been demonstrated in various inflammatory disorders. Thirty-nine children hospitalized with hepatitis A virus infection were evaluated by ultrasound. Pseudosurgical gallbladder wall of 10 mm or more with striation was found in 10. Pathological echographic findings were found in the pancreas of three patients, one with frank pancreatitis. Ascitic fluid was noted in eight. Pediatricians and pediatric surgeons alike should be familiar with this gallbladder and pancreatic involvement, which might avoid unnecessary procedures or surgery.

Adolescent↗
PubMed1996

Functional endoscopic sinus surgery of orbital subperiosteal abscess in children.

Subperiosteal abscess of the orbit (SPA) should be considered an important part of the group of orbital complications following acute sinusitis. This situation requires early surgical intervention to avoid visual loss or ophthalmoplegia. Six cases of children with SPA of the orbit treated successfully by Functional Endoscopic Sinus Surgery (FESS) are reviewed. The importance of ophthalmological examination, nasal endoscopy and CT scan is emphasized concerning the management protocol. The major advantage of FESS is the avoidance of external ethmoidectomy with the resultant scar. FESS is demonstrated as a safe and convenient procedure with excellent post operative recovery of the patients.

Abscess↗
PubMed1996

Focal bacterial nephritis (lobar nephronia) in children.

We report 13 patients with 16 episodes of acute lobar nephronia diagnosed in a prospective study that was conducted among 210 hospitalized children with urinary tract infection. In 30 episodes of urinary tract infection, a hypoechogenic or hyperechogenic lesion was found. Twenty patients underwent computed tomography, and in 16 of them acute lobar nephronia was diagnosed. Evolution to renal abscess occurred in 25%. Prolonged intravenous antibiotic treatment was sufficient in all cases.

Abscess↗
PubMed1995

Lipomatosis of the scalp and macrocephaly.

In summary, a case of macrocephaly and lipomatosis of the scalp and forehead has been presented. The phenotypic and clinical features found in our patient are in accordance with previous reports. The differential diagnosis with other hamartoneoplastic syndromes has been evaluated and discarded, concluding that the present report is in accordance with Bannayan-Zonana syndrome. However, as in other inherited traits, finding a genetic test to diagnose this entity remains a challenge.

Child, Preschool↗
PubMed1993

A kindred with Griscelli disease: spectrum of neurological involvement.

We report four members of a highly consanguineous family with silver-grey pigmentation of hair, two of whom had skin histology compatible with Griscelli disease. Unlike previously reported patients, they did not suffer from recurrent infections. In addition, there was a spectrum of neurological involvement varying from mild cognitive delay with a convulsive disorder in one patient, to a fatal degenerative course in three others. One patient developed a prolonged febrile illness with histological evidence of florid lymphoid hyperplasia.

Child, Preschool↗
PubMed1993

Deteriorating neurological and neuroradiological course in treated biotinidase deficiency.

We report a 7-month-old female baby with recent onset of neurological manifestations and mucocutaneous candidiasis. Immunological findings were compatible with severe combined immune deficiency (SCID). Infectious etiology of the central nervous system (CNS) involvement was ruled out. Biotinidase deficiency was suspected because of the concomitance of neurological and immunological deficits and was confirmed by enzymatic assay. Comprehensive treatment, including bone marrow transplantation (BMT) and biotin, resulted in immunological recovery, but no improvement of neurological condition. Serial brain CT scans over a period of 2 1/2 years demonstrated profound progression of brain atrophy involving gray matter.

Amidohydrolases↗