PubMed Health⌕ Search

Biomedical subjects

P G Wheeler

Publications and source records attributed to P G Wheeler.

At least 19 recordsLinked to original sources
PubMed2001

Partial urorectal septum malformation sequence: a report of 25 cases.

We have identified 25 cases with what we are calling the partial urorectal septum malformation (URSM) sequence, which were seen in our institution over the past 27 years. The partial URSM sequence is defined as a single perineal/anal opening that drains a common cloaca in combination with an absent (imperforate) anus. In the 25 patients reported here, the partial URSM sequence was more common in females, with a female to male ratio of 18 to 7. Ambiguous genitalia were common in both sexes. Internal pelvic structures typically showed a cloaca with the bladder and rectum (and vagina in females) coalescing into a common canal that connected to the external surface in the perineal or anal area. Abnormalities of the internal genitalia were also common, with 12 females having a bifid or septate vagina and 11 having a bicornuate uterus. Renal anomalies were frequent in both sexes, with 10 of 25 patients having unilateral cystic renal dysplasia and 7 of 25 patients having unilateral renal agenesis. Twenty-one of 25 patients survived long term. By definition, the partial URSM sequence is a milder expression of the full URSM sequence, which is defined as having no perineal or anal openings and is typically associated with an internal cloaca. The URSM spectrum, which encompasses the partial and full URSM sequences, is believed to be caused by abnormalities of septation of the primitive cloaca. The URSM spectrum is distinct from the VATER association and conditions caused by sex hormone abnormalities, such as congenital adrenal hyperplasia.

Abnormalities, Multiple↗
PubMed2001

Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome.

Two families are presented in which siblings of children affected with Hallervorden-Spatz syndrome exhibited characteristic cranial magnetic resonance imaging changes before developing clinical features of the disease. Linkage to a major locus on chromosome 20p supported the diagnosis of Hallervorden-Spatz syndrome. In some patients with Hallervorden-Spatz syndrome, iron is radiographically evident before the onset of clinical symptoms.

Adult↗
PubMed2000

Hypogonadism and CHARGE association.

The G of the CHARGE association represents genital hypoplasia, which is typically recognized only in males (micropenis/cryptorchidism). The cause of genital hypoplasia in this disorder has not been determined. We now report the cases of nine individuals with CHARGE association and hypogonadotropic hypogonadism, manifested by hypogenitalism and gonadotropins at or below minimal detectable levels at ages when these hormones should be readily measurable. We suggest that central hypogonadism is responsible not only for the genital hypoplasia in male patients but also for the lack of secondary sexual development in patients of both sexes. Since hypogonadotropic hypogonadism appears to be the usual cause of genital and pubertal abnormalities in CHARGE association, measurement of serum luteinizing hormone (LH) and follicle-stimulating hormone (FSH) concentrations in infants up to 2-3 months of age who are suspected of having this disorder could help establish the diagnosis. Determination of serum LH and FSH concentrations in teenagers with CHARGE association could result in early diagnosis of hypogonadotropic hypogonadism, allowing for treatment of hormonal deficiencies and minimization of potential secondary psychosocial and medical problems.

Abnormalities, Multiple↗
PubMed2000

Genetic screening in patients of reproductive age. How do you advise prospective parents who want to know specific risks?

At times, determining the actual genetic condition occurring in a family can be very difficult. The most important steps in deciding when testing is appropriate are the patient's age and family history, with special attention to ethnic background. By identifying risk factors before pregnancy, prospective parents can be fully informed about their specific risk of having a child with a genetic condition. Furthermore, the pros and cons of invasive prenatal diagnostic procedures often can be fully discussed well in advance of an actual pregnancy. Clinical geneticists and genetic counselors can provide valuable assistance when difficult questions or problems arise.

Adult↗
PubMed1999

The 3C syndrome: evolution of the phenotype and growth hormone deficiency.

The 3C syndrome (cranio-cerebello-cardiac dysplasia or the Ritscher-Schinzel syndrome) is a recently delineated condition involving abnormalities of the cranium (large head with prominent forehead), cerebellum (Dandy-Walker cyst and vermis hypoplasia), and cardiac (primarily septal) defects. At least 20 individuals with this condition have been reported in the past 11 years. We report on a girl with the 3C syndrome who at 13 years of age is the oldest patient reported to date. She has been followed since birth, allowing us to show the evolution of her phenotype over time. In addition, she has documented growth hormone deficiency. We suggest that growth hormone deficiency should be considered as a possible cause of the short stature often seen in this condition.

Abnormalities, Multiple↗
PubMed1998

Livedo reticularis, developmental delay and stroke-like episode in a 7-year-old male.

Livedo reticularis is a vascular abnormality of the skin resulting in an erythematous reticular rash. The combination of livedo reticularis and stroke-like episodes in adults is known as Sneddon syndrome [Sneddon, IB (1965). Br J Dermatol 77:180-188]. A similar combination of stroke-like episodes and livedo reticularis has been reported to occur in children [Baxter P et al. (1993). Dev Med Child Neuro 35:917-926]. We present here a 7-year-old male with congenital livedo reticularis, obesity, developmental delay, stroke-like episode, hypertension and cystic kidneys. We summarize our patient's findings and family history, and compare his disorder to other possibly related conditions.

Adult↗
PubMed1997

Urorectal septum malformation sequence: report of thirteen additional cases and review of the literature.

We present the findings of 13 additional cases of the urorectal septum malformation (URSM) sequence, and review the literature. The URSM sequence consists of ambiguous genitalia concurrent with absence of perineal and anal openings. The sex ratio of the 13 new cases was 7 males to 6 females and from the literature 21 males and 28 females. In addition, 11 of the 13 new cases had anorectal atresia with 5 of the cases also having partial agenesis of the colon. Bilateral renal agenesis was present in 3 of the 13 cases, unilateral renal agenesis occurred in 6, and dysplastic kidneys were found in 10. The URSM sequence is a lethal condition with long-term survival reported in only 3 of a total of 62 literature and new cases. Recurrence of this condition has not been reported.

Abnormalities, Multiple↗
PubMed1995

Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome.

A chromosomal translocation between chromosomes 4 and 8 resulting in Wolf-Hirschhorn syndrome in 2 individuals has been traced through 4 generations of a family. Ascertainment of the family was through a newborn infant with evident Wolf-Hirschhorn syndrome who had an unbalanced chromosomal translocation [46,XY,-4,+der(4),t(4;8) (p15.32;p22)]. Discussion with the family documented a paternal great-uncle who also had a similar phenotype and profound mental retardation. Subsequently this individual was found to have the same unbalanced chromosome constitution as the propositus. The 39-year-old great-uncle is the oldest reported individual with the Wolf-Hirschhorn syndrome. The importance of chromosome evaluation of older individuals with mental retardation syndromes is emphasized.

Abnormalities, Multiple↗
PubMed1993

Familial remitting chorea, nystagmus, and cataracts.

We report on 2 brothers with chorea and monocular horizontal nystagmus beginning in early infancy, both of which remit during the first decade of life, and peripheral cataracts. While this condition shares manifestations with benign hereditary chorea and several other familial movement disorders, the slowly remitting course of the chorea combined with the visual abnormalities appears to be unique.

Cataract↗
PubMed1981

Factors relating to aldosterone secretion rate, the excretions of aldosterone 18-glucuronide, and the plasma aldosterone concentration in cirrhosis.

In a group of eight patients with cirrhosis the rate of renal excretion of the 18-glucuronide metabolite of aldosterone (U Aldo V) was found to be closely related to the aldosterone secretion rate (ASR). U Aldo V was therefore used as an index of ASR in a further group of fifty patients in order to evaluate the possible importance of factors known to regulate aldosterone secretion. U Aldo V showed statistically significant relationships to both plasma renin activity (PRA) and the plasma sodium concentration (P Na), but not to the plasma potassium concentration (PK) or the renal excretion of cortisol (U Cort V), the latter sued as an index of adrencorticotrophic hormone activity. The plasma aldosterone concentration (P Aldo) was determined in fifty-eight patients and also found to show statistically significant relationships to PRA and P Na. P Aldo showed a weak, though statistically significant, relationship to PK, but not to U Cort V. These findings are in keeping with a role for the renin-angiotensin system in the control of aldosterone secretion in cirrhosis although evidence from other studies suggest other factors to be involved also. Whether P Na was another determinant of ASR, or whether aldosterone was a determinant of P Na through regulating sodium reabsorption by the proximal tubule of the nephron, is uncertain.

Adult↗
PubMed1981

Newer techniques in the diagnosis and treatment of proximal bile duct carcinoma--an analysis of 41 consecutive patients.

The clinical course of 41 consecutive patients with primary bile duct carcinoma at or near the liver hilum was analysed to determine whether the outcome was improved by newer techniques of diagnosis and treatment. The age range was wide, with one third under 50 years. The only aetiological factor identified was long-standing ulcerative colitis (present in 9.8 per cent of patients). In one third of patients initial symptoms were misleading. The tumour had been missed in 11 (61 per cent) of 18 patients undergoing an exploratory laparotomy at other hospitals, despite operative cholangiography. None had pre-operative percutaneous cholangiography which was shown to be the best investigatory technique, giving the correct diagnosis in all cases in whom it was performed. Greyscale ultrasonography was useful and endoscopic retrograde cholangiography less so. Median survival in those treated by surgical T- or U-tube drainage (21 patients) or bypass (three) was nine months from diagnosis, as opposed to three months in the 36.5 per cent of patients in whom biliary drainage was not obtained. Radiotherapy, including insertion of a radioactive iridium wire through the tumour via a T- or U-tube, or percutaneously, was performed in nine patients and improved the duration of survival compared with tube drainage alone. The new percutaneous techniques offer a useful alternative to surgery for palliative drainage and radiotherapy.

Adult↗
PubMed1980

The use of therapeutic embolisation at the time of hepatic arteriography in the management of primary tumours of the liver.

In 10 of 14 patients with primary hepatic tumours the technique of selective arterial embolisation with gelatin foam was successful in inducing necrosis of the tumour tissue. In the patients with histologically proven hepatocellular carcinoma there was ultrasonographic evidence that this was produced, as was also shown by a rapid initial fall in serum alpha-foetoprotein concentration. Treatment was continued with a course of doxorubicin (Adriamycin) and the patients remained well and symptom-free for a median of 10 months, the longest survival being 19 months. In two patients with localised and highly vascular contraceptive pill-associated hepatic tumours, embolisation was followed by complete disappearance of the tumour mass in one and resolution of obstructive jaundice in the other. In one other the response was equivocal.

Adenoma↗
PubMed1979

Abnormal intestinal permeability to sugars in villous atrophy.

Intestinal permeability to a monosaccharide and a disaccharide was compared by simultaneous measurement of the urinary excretion of L-rhamnose and lactulose after oral ingestion of an hypertonic solution containing both sugars. Urine samples were analysed for sugar content by quantitative thin-layer or paper chromatography. Results in thirteen patients with untreated villous atrophy were compared with those in twelve healthy volunteers. Urinary L-rhamnose excretion was significantly decreased (-40%, p less than 0.02) in patients with villous atrophy, whereas lactulose excretion was paradoxically and significantly increased (+345%, p less than 0.01). The median value of the lactulose/L-rhamnose urinary excretion ratio was sevenfold higher in the patients with villous atrophy; there was no overlap of values for patients and volunteers (p less than 0.01). It is postulated that reduced L-rhamnose urinary excretion in untreated villous atrophy is due to a decreased absorptive area in the small bowel, whereas increased lactulose excretion indicates leakiness of the abnormal mucosa to larger polar molecules.

Adult↗
PubMed1979

Non-operative arterial embolisation in primary liver tumours.

Three patients with primary hepatic tumours were treated by selective arterial embolisation with gelatin-foam fragments to induce necrosis. In the two with histologically proved hepatocellular carcinoma ultrasonography suggested that necrosis had been induced, as did the rapid initial falls in serum alpha-fetoprotein concentration by 95 and 81% of the original values respectively. Treatment was continued with a course of adriamycin, and both patients remained well and symptom free at 10 and 12 months. In the third patient, who had an expanding and highly vascular benign hepatic adenoma associated with use of a contraceptive pill, embolisation obliterated the tumour mass. Tumour embolisation should be regarded as only the first step in managing hepatocellular carcinoma and as a means of reducing appreciably the viable tumour mass before chemotherapy. It may be used as the primary and definitive treatment in patients with benign liver tumours.

Adenoma↗
PubMed1979

Non-invasive techniques in the diagnosis of jaundice--ultrasound and computer.

This study describes the use of ultrasound in 84 consecutive patients to distinguish between medical (intrahepatic) and surgical (extrahepatic) types of jaundice. Accuracy rates in the 84 patients investigated were compared with those found in 169 patients using the computer-aided diagnostic model for jaundice. In 50 patients in whom both techniques were carried out direct comparison was possible. Ultrasound failed to give adequate visualisation for technical reasons in two patients, but 75 of the remaining 82 (91.5%) were correctly separated into medical and surgical categories. A similar percentage (90%, 152 of 169 patients) were correctly classified by the computer-assisted model, and in the 50 patients assessed by both techniques correct diagnostic separation was achieved in 43 (86%) by ultrasound and in 42 (84%) by computer. However, in this latter group two of the errors with computer diagnosis were falsely positive for a surgical jaundice (extrahepatic obstruction), and a surgical exploration performed on the basis of this test could have been unnecessary. This was not found with ultrasound in these same patients, all the errors being false negative. A high degree of confidence can therefore be attached to the demonstration by ultrasound of a dilated biliary tree.

Cholestasis↗