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J H Walters

Publications and source records attributed to J H Walters.

15 recordsLinked to original sources
PubMed1998

Dopa-responsive dystonia: a clinical and molecular genetic study.

We have studied the GTP-cyclohydrolase 1 (GCH-1) gene in 30 patients with the diagnosis of clinically definite (n = 20) or possible (n = 10) dopa-responsive dystonia (DRD) as well as in a child with atypical phenylketonuria due to complete GCH-1 deficiency. A large number of new heterozygote mutations (seven point mutations, two splice site mutations, and one deletion) as well as a new homozygote mutation in the child with atypical phenylketonuria were detected. In addition, two previously described mutations were found in two other cases. We further extended our investigation of GCH-1 to the 5' and 3' regulatory regions and report the first detection of point mutations in the 5' untranslated region. Demethylation of CpG islands does not appear to be an important causative factor for the GCH-1 mutations in DRD. In addition, we have extended the clinical phenotype of genetically proven DRD to focal dystonia, dystonia with relapsing and remitting course, and DRD with onset in the first week of life. None of our DRD patients without a mutation in GCH-1 had the 3-bp deletion recently detected in DYT1, the causative gene for idiopathic torsion dystonia with linkage to 9q34.

5' Untranslated Regions↗
PubMed1982

Sonographic detection of polyhydramnios: a five-year experience.

Between 1975 and 1980, 16,586 sonograms, including repeat scans, were obtained on pregnant women for various obstetric indications. The diagnosis of polyhydramnios was made 78 times by an experienced sonographer as a simple observer judgment of an excess amount of amniotic fluid. In pregnancies thus diagnosed, the fetus was then carefully scanned for anomalies, and repeat scans were done. Major clinical problems encountered are discussed.

Congenital Abnormalities↗
PubMed1981

Genital herpes simplex.

Genital herpes is a sexually transmitted disease caused by the herpes simplex virus. Following the initial infection the virus becomes latent in the sacral ganglia. Approximately 80% of patients are then subject to milder but unpredictable recurrences and may shed the virus even when they are asymptomatic. The disorder causes concern because genital herpes in the mother can result in rare but catastrophic neonatal infection and because of a possible association between genital herpes and cancer of the cervix. No effective treatment is as yet available. Weekly monitoring for virus by cervical culture from 32 weeks' gestation is recommended for women with a history of genital herpes and for those whose sexual partner has such a history.

Female↗
PubMed1981

Postradiation ureteral obstruction: a reappraisal.

Thirty-four patients who received radiation therapy for carcinoma of the cervix developed hydronephrosis. Twelve of 34 (35%) had no evidence of pelvic malignancy, and the obstruction was caused by periureteral fibrosis. The incidence of obstructive uropathy due to periureteral fibrosis not associated with recurrent tumor increased when the obstructing lesion was unilateral, the clinical staging of the cervical carcinoma prior to therapy was Stage IB or Stage II rather than Stage III or Stage IV, and the obstructing lesion appeared 2 or more years after the completion of radiation therapy. The appearance of hydronephrosis in association with ipsilateral leg edema, and sciatic pain these patients strongly suggest a recurrent tumor. The diagnosis of periureteral fibrosis should be considered in all patients who develop obstruction of the urinary tract after radiation therapy for carcinoma of the cervix. Laparotomy is indicated if all other methods of investigation fail to confirm the presence of a malignant lesion.

Edema↗
PubMed1981

Puerperal febrile complications and cervical flora following elective manual exploration of the uterus.

Two hundred patients who underwent vaginal delivery were randomly divided into two groups on arrival to the case room in labor. After delivery was completed the uteri of 100 patients were manually explored; the remainder of the patients served as a control group. Aerobic and anaerobic cultures of the endocervix were taken from 50 patients in each group, during labor and on the fourth postpartum day. There was no difference in the number of puerperal febrile complications between the groups. Endocervical cultures showed a marked increase in the incidence of Escherichia coli and anaerobic bacteria after delivery. This increase occurred in both groups in similar proportions and was not affected by manual exploration.

Bacterial Infections↗
PubMed1980

Myomas of the uterus in pregnancy: ultrasonographic follow-up.

A review was made of the medical records of pregnant patients who had myomas that were documented by ultrasonographic studies. Only 42% of the myomas were diagnosed by physical examination. In most instances the clinical diagnosis was made when the neoplasm was large. However, when the myoma was 3 cm to 5 cm in diameter, the rate of detection on physical examination was only 12.5%. The relationship between the location of the myomas and the placental site emerged as a significant prognostic clue to the outcome of the pregnancy. Ten of 13 patients in whom there was contact between the two presented with complications of pregnancy, mainly antepartum bleeding and premature rupture of membranes. A prospective study is currently in progress.

Adult↗
PubMed1974

Malabsorption in overland travellers to India.

Thirty-four cases of malabsorption are described in young adults after brief periods of overland travel to India. Symptoms included diarrhoea, abdominal distension, and weight loss. Investigation revealed fat, xylose, and vitamin B(12) malabsorption with marked morphological changes in the mucosa. Lower levels of serum folate and vitamin B(12) were observed in those with protracted diarrhoea, but no anaemia developed. Malabsorption may persist for many months after return to the U.K. Most patients responded initially to antibiotics, but some subsequently relapsed. The reasons why these patients developed tropical sprue are discussed.

Adult↗
PubMed1954

The effect of hypophysectomy on 9,10-dimethyl-1,2-benzanthracene-induced carcinogenesis [abstract].

In view of the findings of Moon, Simpson, and Evans (Science, 116:331,1952) that the hypophysectomized rat was refractory to the carcinogenic effect of methyl-cholanthrene, similar experiments have been conducted but using the more powerful carcinogen 9,10-dimethyl-1,2-benzanthracene. The results of 2 separate experiments were as follows: All animals received 5 mg in sesame oil of the carcinogen intramuscularly. In the control animals, 15 showed discrete sarcoma out of 21 animals in 4-5 months. In the hypophysectomized animals only 3 showed comparable sarcoma, but in 7 there was marked abnormal proliferation of fibroblasts suggestive of malignant change. 9 animals were negative, although serial sections were not made. In addition to these findings it was noted that in control animals 6 mammary tumors developed in tissue adjacent to the injection site. 4 of these were of a malignant nature. In the hypophysectomized group no mammary changes were observed. Although these findings are somewhat in accord with the original observations it is believed that the change is quantitative rather than qualitative. Unfortunately, the hypophysectomized animals survived only 3-4 months, and the findings are suggestive that the malignant process occurs but more slowly in the absence of the normal pituitary function. The changes in mammary tissue would seem more clearcut, but are being repeated on a larger series of animals.

Animals, Laboratory↗