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Biomedical subjects

M Hertz

Publications and source records attributed to M Hertz.

At least 109 records · Page 6Linked to original sources
PubMed1981

Symphalangism with multiple anomalies of the hands and feet: a new genetic trait.

We report a new autosomal dominant condition involving hands and feet of an Arabic father and 5 of his 11 children. This trait is characterized by symphalangism, syndactyly, brachydactyly type D, clinodactyly, and hypoplasia of the thenar and hypothenar eminences. Affected persons had symphalangism and syndactyly plus some or all or part of the other anomalies. Symphalangism, the main defect in this syndrome, showed variable expressivity. A distinct dermatoglyphic pattern was observed in all affected relatives. Linkage studies were done; however, no linkage was demonstrated.

Adult↗
PubMed1981

Duplication of the kidney: a potential diagnostic pitfall.

Nine patients with marked vesicoureteral reflux into a contracted, pyelonephritic kidney were found at time of surgery to have complete duplication of the affected side. Eight of them also had an ectopic ureterocele. The radiological diagnosis of duplication was virtually impossible as all these kidneys showed reflux nephropathy and were smaller than the contralateral kidney. The surgical management is briefly outlined.

Adult↗
PubMed1981

[Urolithiasis in Isreali children (author's transl)].

Sixty-eight children (ages ranging from 5 months to 16 years) with urolithiasis were treated between 1966 and 1979. There were 36 females (53%) and 32 males (47%). Sixteen children (24%) had associated urinary tract infection; 4 out of these (6%) presented with urinary tract malformation. Fifty-five calculi (89%) were found in the upper urinary tract (kidney and ureter); 24 of the chemically studied calculi (80%) were made of calcium salts. In 30 children, metabolic investigations were carried out, leading to the discovery of hypercalciuria in 17 (57%). In one patient, important vesico-ureteral reflux associated with urolithiasis led to renal failure.

Adolescent↗
PubMed1981

Sacral agenesis.

Five cases of partial or complete agenesis of the sacrum (also called the caudal regression syndrome) diagnosed at the Chaim Sheba Medical :Center are reported. Neurological dysfunction of the bladder was present in all. Two patients were diagnosed at the ages of four months and three years, and had dilated collecting systems and neurological deficits of the upper motor neuron type. In three of the patients, the malformation was recognized later, at the ages of 7 1/2, 11 and 22 years. All three had a normal urinary tract, on examination by intravenous urography, and neurological deficits of the lower motor neuron type. Although no overt reduction of renal function was noted in those of our patients in whom diagnosis was delayed, it appears that early diagnosis and treatment of the neurogenic bladder associated with the caudal regression syndrome may reduce both morbidity and discomfort.

Abnormalities, Multiple↗
PubMed1981

New clinical observations in the trichorhinophalangeal syndrome.

Two unrelated Jewish families are reported with new clinical and radiographic findings observed in the trichorhinophalangeal syndrome (TRPS). These new observations are mainly of a skeletal nature and emphasize the wide range of expressivity found in the TRPS. Furthermore, these bony defects along with the characteristic hair changes suggest that the basic defect in this syndrome involves some developmental alteration in the normal growth and maturation of bone and hair.

Abnormalities, Multiple↗
PubMed1980

A new white forelock (poliosis) syndrome with multiple congenital malformations in two sibs.

Two Jewish Ashkenazi male sibs are reported as having a new syndrome consisting of a white forelock, distinct facial features associated with congenital malformations involving the eye, cardio-pulmonary and skeletal systems. It is postulated that the etiology of this disorder is genetic and transmitted either as an autosomal recessive or X-linked recessive conditions.

Abnormalities, Multiple↗
PubMed1980

Scaphoid megalourethra: a report of 2 cases.

Two cases of scaphoid type megalourethra are reported. Both patients had upper urinary tract dilatation and in one of them massive vesicoureteric reflux was demonstrated. The urinary tract in one patient returned to normal after correction of the megalourethra. The second infant, who had vesicoureteric reflux underwent ureteric reimplantation as well as correction of the deformed urethra. A description of the surgical technique and clinical and radiological follow-up is given.

Dilatation, Pathologic↗
PubMed1980

Autosomal recessive peripheral sensory neuropathy in 3 non-Ashkenazi Jewish families.

Three unrelated Oriental Jewish families with a total of eight subjects with progressive hereditary sensory neuropathy are reported. The parents were all unaffected and because of parental consanguinity in each of the three families it is postulated that this rare neurological disorder is transmitted in an autosomal recessive manner. In one family both parents showed an abnormal response to pain stimulation with normal motor and sensory nerve conduction velocity. This response may be an expression of the carrier state for this hereditary disease. Only five other families (non-Jewish) have been reported as having this form of peripheral hereditary sensory neuropathy. These observations suggest that one type, the progressive form, of peripheral hereditary sensory neuropathy may be more common in Oriental Jews.

Adolescent↗
PubMed1980

Adenocarcinoid of appendix presenting as bilateral ovarian tumors. A case report with histochemical and ultrastructural studies.

A 62-year-old female presented with bilateral ovarian tumors. These proved to be metastatic from a primary appendiceal lesion which showed histochemical and ultrastructural evidence of differentiation along two cell lines with features of both carcinoid and mucinous tumor. This case illustrates the malignant potential of so-called mucinous carcinoid or adenocarcinoid of the appendix.

Appendiceal Neoplasms↗
PubMed1980

The conservative management of vesicoureteric reflux: a review of 121 children.

A group of 121 children with vesicoureteric reflux (VUR) grades 1 to 3 managed conservatively were followed-up for a period of six to ten years. In the majority of patients VUR grades 1 and 2 disappeared spontaneously. Prognosis was less favorable in those who were seen initially with grade 3 VUR. A statistically significant higher incidence of reflux disappearance was observed in children who were seen before 4 years of age. In the majority of patients with paraureteric-vesicle diverticulum, reflux persisted. Reflux was more likely to disappear in children with lower incidence of urinary tract infection than in those with multiple infections.

Adolescent↗
PubMed1979

Radiological findings of the urinary tract in hypospadias: a report of 110 cases.

One hundred and ten patients with hypospadias underwent excretory urography and micturating cysto-urethrography before surgical correction. Urographic studies revealed abnormalities in 50 patients (45%), mainly anomalies of ascent and rotation of the kidneys. None of these patients required corrective surgery. Voiding cysto-urethrography disclosed disease of the urinary tract in 65 of 110 patients (59%). Meatal stenosis was found in 38 patients and a rudimentary vagina or a prostatic utricle was revealed in 11 others. Vesico-ureteral reflux was present in 14 patients, seven of whom had meatal stenosis as well. Cystitis was found in eight and a stricture of the membraneous urethra in one patient. The voiding cysto-urethrogram is able to demonstrate functionally significant meatal stenosis, genital abnormalities and vesico-ureteral reflux. It can also serve as a useful baseline for comparison with postoperative studies. We therefore consider that it should be included in the preoperative work-up of every patient with hypospadias. Excretory urography, however, is perhaps indicated only in those with urinary tract infection, or in patients otherwise symptomatic.

Adolescent↗