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Biomedical subjects

G Katz

Publications and source records attributed to G Katz.

At least 55 records · Page 3Linked to original sources

Symptoms of pituitary apoplexy rapidly reversed with bromocriptine. Case report.

Macroprolactinomas rarely present with apoplexy. The authors describe a patient with a macroprolactinoma who presented with apoplexy and rapid progression of a third nerve palsy. The patient was managed expectantly with bromocriptine, and within 48 hours, the patient's third nerve palsy had completely resolved. The authors suggest that all patients who present with pituitary apoplexy in the presence of a pituitary tumor receive an immediate course of bromocriptine and steroid therapy until the prolactin level can be determined. Emergency surgery is indicated if visual function is abnormal and the tumor is not a prolactinoma.

Adult↗

Mutations in the SLC3A1 transporter gene in cystinuria.

Cystinuria is an autosomal recessive disease characterized by the development of kidney stones. Guided by the identification of the SLC3A1 amino acid-transport gene on chromosome 2, we recently established genetic linkage of cystinuria to chromosome 2p in 17 families, without evidence for locus heterogeneity. Other authors have independently identified missense mutations in SLC3A1 in cystinuria patients. In this report we describe four additional cystinuria-associated mutations in this gene: a frameshift, a deletion, a transversion inducing a critical amino acid change, and a nonsense mutation. The latter stop codon was found in all of eight Ashkenazi Jewish carrier chromosomes examined. This report brings the number of disease-associated mutations in this gene to 10. We also assess the frequency of these mutations in our 17 cystinuria families.

Americas↗

[Cystinuria and urolithiasis].

Cystinuria is a hereditary metabolic disorder which causes urinary lithiasis. Patients with cystinuria present at an earlier age (17 years), and with larger stones than patients with other types of urinary stones. As a result of frequent formation of new stones and multiple operations, many patients suffer from obstructive nephropathy and deterioration of kidney function. During the past decade we treated and followed 51 patients with cystine urolithiasis from 39 families. Screening disclosed another family member with cystinuria in 56% of the cases. The diagnosis of cystinuria was only made an average of 2 years after a patient first presented. In the group 12 kidneys had been removed due to various complications and in 7 kidneys there was significant deterioration of function. Each patient underwent a mean of 5.8 surgical interventions, including open operations, extra-corporeal shock wave lithotripsy (ESWL), percutaneous nephrolithotripsy (PCNL) and urethroscopy, but most still had residual stone fragments. To prevent complications from cystine urolithiasis every effort should be made to detect the disease early, including screening of families of patients with cystinuria and close follow-up of all family members. Early detection of stones, before they become large makes noninvasive treatment with ESWL possible, whereas large stones require PCNL. Patients should be urged to maintain high urine outputs and to continue uninterrupted treatment with penicillamine or tiopronin, and urinary alkalinization.

Cystinuria↗

[Congenital urethral strictures].

We present 12 patients with presumed congenital urethral stricture (mean age at diagnosis 20 years). They complained of various urological symptoms, including dysuria, transient urinary retention, urgency and reduced flow. The time from onset of symptoms to diagnosis averaged 18 months. The strictures were presumed congenital because no patient had a history of urethral infection or of instrumentation, and all the strictures were at the proximal bulbar urethra, as has been described for congenital, bulbar, urethral stricture. We treated 5 patients initially by internal urethrotomy, of whom 2 required transurethral dilatation at follow-up. 7 others were treated initially by transurethral dilatation, 4 of whom required more than 1 treatment. Follow-up has averaged 21 months. In 8 of 10 patients the maximal urinary flow at latest follow-up is greater than 20 ml/sec.

Adult↗

Early knowledge of object motion: continuity and inertia.

Experiments investigated whether infants infer that a hidden, freely moving object will move continuously and smoothly. Infants aged 6 and 10 months, like the 4-month-old infants in previous experiments, inferred that the object's path would be connected and unobstructed, in accord with the principle of continuity. In contrast, 4- and 6-month-old infants did not appear to infer that the object's path would be smooth, in accord with the principle of inertia. At 8 and 10 months, knowledge of inertia appeared to be emerging but remained weaker than knowledge of continuity. These findings are consistent with the view that common sense knowledge of physical objects develops by enrichment around constant core principles.

Cognition↗

Localization of a gene causing cystinuria to chromosome 2p.

Cystinuria is an autosomal recessive disorder of amino acid transport. It is a common hereditary cause of kidney stones worldwide, and is associated with significant morbidity. In 17 affected families, we found linkage between cystinuria and three chromosome 2p markers. Maximal two-point lod scores between cystinuria and D2S119, D2S391 and D2S288 were 8.23 (theta = 0.07), 3.73 (theta = 0.15) and 3.03 (theta = 0.12), respectively. Analysis of recombinants and multipoint linkage data indicated that the most likely order is cen-D2S391-D2S119-cystinuria-D2S177-tel. We also observed high rates of homozygosity for markers in this chromosomal region among 11 affected offspring of consanguineous marriages. Based on its map position and function, the recently cloned SLC3A1 amino acid transporter gene is a primary candidate gene for this disease.

Amino Acid Transport Systems, Basic↗

Obstruction of urethral stents by mucosal overgrowth.

Urethral strictures are difficult to cure. In 1988, a new treatment was reported, consisting of dilation or incision of the stricture followed by implantation of a specially designed stent meant to allow the urethral epithelium to heal and cover the stent while preventing shrinkage of the scar and reappearance of the stricture. Two cases are reported here in which implantation of the stent resulted in a foreign-body reaction and obstruction of the lumen of the urethra. The area obstructed was reopened by transurethral removal of the reactive tissue. The long-term effect of this reaction on the patency of the urethra is still unknown.

Aged↗

[Doctor Westerlund's letters to Augusta Jansson].

Dr Ernst Westerlund--in Sweden called the Enköping-doctor--had his practice in the town of Enköping. Dr. Westerlund was known to be an excellent diagnostician; he had a very good reputation in Sweden and even abroad. He had a very personal and individual relation with his patients and the article describes a correspondence between him and one of his patients, Miss Augusta Jansson and is based on 150 letters from 1879 to 1923.

History, 19th Century↗

[Post-traumatic schizophrenia. A case].

We present a case of post-traumatic schizophrenia the interest of which lies in the plurality of aetiological factors and in the signs announcing the disease observed: many mental patients among collaterals and obsessive disorders during childhood. After a brief review of the literature, this case incites us to question the existence of such a thing as post-traumatic schizophrenia and to wonder about the role played by multifactoriality in the determinism of schizophrenia.

Accidents, Traffic↗

Effect of lidocaine on ureteral motility and fluid transport in vitro.

We used a whole canine ureter, under constant inflow hydrostatic pressure, in a tissue bath, to investigate the effect of lidocaine on flow and contractility in the ureter, simultaneously. Lidocaine caused increased contractility and reduction of flow in 9 ureters tested. In 5/9 ureters exposed to lidocaine in concentration of 50 to 500 micrograms/mL in the bath, the contraction became continuous and the flow ceased. This could be reversed by irrigating the bath with fresh solution. We conclude that lidocaine causes increased contractility and reduction of flow in canine ureters in vitro.

Animals↗

An incompletely identified combined urogynecological malformation presenting as anuria.

We report on an 18-year-old woman with a combined urogynecological malformation who presented with anuria. At the age of 8 years she presented elsewhere with urometrocolpos secondary to a left hypoplastic kidney and an ectopic ureter that inserted into the vagina. A retroiliac right ureter also was identified. She underwent surgical treatment and was reported in the urological literature. At menarche she began to have severe dysmenorrhea. After multiple hospitalizations elsewhere without diagnosis she presented to our emergency room with anuria. The anuria was the direct result of additional, previously unidentified malformations, consisting of uterus duplex bicollis and vaginal hypoplasia. We emphasize the importance of identifying all components of the genital and urological systems whenever anomalies are present in either system.

Abnormalities, Multiple↗

Ocular aspergillosis isolated in the anterior chamber.

BACKGROUND: In all cases in which ocular involvement has been reported in endogenous aspergillosis, the posterior segment of the eye was involved. METHODS: The authors examined a patient who had been intubated and treated with corticosteroid therapy for status asthmaticus and in whom a mass later developed in the anterior chamber of the right eye. RESULTS: Computed tomography showed a solitary lesion in the left lower pulmonary lobe and multiple brain lesions that enhanced with contrast. Aspergillus fumigatus was cultured from the endotracheal tube. However, ocular and blood cultures were negative, as were the results of a bone marrow biopsy, lung biopsy, and anterior chamber paracentesis. Disseminated aspergillosis was confirmed when a biopsy of the anterior chamber mass was performed, and results of histopathologic examination showed the presence of hyphae. The patient responded to a regimen of antifungal drugs. CONCLUSION: This is the first known reported case in which the diagnosis of disseminated aspergillosis was confirmed with biopsy of an anterior chamber mass. This case demonstrates that Aspergillus organisms may disseminate to the anterior chamber of the eye without involving the posterior segment.

Adult↗

Extracorporeal shock wave lithotripsy for treatment of ureterolithiasis in patients with cystinuria.

Ten of 42 patients with cystinuria admitted for extracorporeal shock wave lithotripsy (ESWL) treatment had ureterolithiasis. Of these, 3 had bilateral stones, 2 had only 1 functioning kidney, and 2 had stones in both the kidney and ureter on the same side. Only 1 patient was on medical treatment at the time of referral. After initiation of medical treatment for cystinuria, 2 patients were discharged without further intervention, 1 was discharged after placement of a ureteric stent and 10 were treated with ESWL. After an average of 1.5 ESWL treatment sessions per ureter, 8 patients became stone-free and in the remaining 2, ureteroscopy was required to complete the treatment. Problems associated with the ESWL treatment of cystine stones are discussed. It was concluded that ESWL is the treatment of choice for ureterolithiasis in patients with cystinuria because it is effective and is the least invasive procedure even in patients with cystinuria.

Adolescent↗

Moving places: a glance at the Gulf War from the sealed room.

During the recent Gulf War a mental health team was set up to deal with immediate stress reactions and to help prevent future difficulties in a group of a few hundred temporarily relocated evacuees from a working- and lower-class suburb of Tel Aviv, Israel. The contextually specific acute stress reaction syndrome observed in the affected population is described. A conceptualization was formulated which served the staff to deal with the problems that arose during this period. Concepts such as potential space, stranger anxiety, environment mother, triangulation in families in conflict, disruption of continuity, and holding and containing were integrated in order to illuminate some aspects of the stressful situation and to deal with problems that arose. The reactions of the mental health professionals to the situation and the relationships of the team with the evacuees and with their colleagues are discussed.

Female↗

[Substance abuse among mental patients].

Abuse of alcohol and other drugs by mental patients has been reported extensively in the past decade, especially in the USA. It has seemed to us that drug abuse has become more common among mental patients treated at this psychiatric hospital and at outpatient clinics in Jerusalem in recent years. Therefore, 100 patients admitted consecutively were questioned with regard to alcohol and drug abuse. A quarter of the male patients were diagnosed as having both a psychiatric disorder and drug abuse. Drug abuse was even more common among male schizophrenics aged 26 to 35, but only 2 reported alcohol abuse. Drugs used were mainly opiates (heroin and methadone) and hashish, and in most cases both. The results indicate that mental patients, especially young men with schizophrenia, may be another risk group for drug abuse in Israel.

Adult↗

Prevention of urethral strictures following coronary artery bypass graft surgery.

A total of 62 patients undergoing coronary artery bypass graft surgery were randomized into three groups using one of three methods for bladder drainage: 12F Foley catheter introduced after anesthesia prior to surgery (21 patients); 12F Foley catheter introduced after termination of cardiopulmonary bypass period (17 patients); or a suprapubic catheter, introduced after termination of the bypass period (24 patients). Later we also studied 39 consecutive patients undergoing coronary artery bypass graft surgery with a 12F Foley catheter introduced after anesthesia to assess the risk of urethral stricture in a larger group of patients. The patients' records were reviewed and a postal questionnaire was sent to all patients six months after surgery. The response rate was 84 percent, with 36 percent having complaints about micturition; of these 79 percent were evaluated by cystourethrography, and 2 cases of urethral stricture were found. The incidence of major postoperative complications was low, with no differences in rate among the various groups. Our results indicate that the use of small caliber Foley catheters is associated with a low incidence of urethral strictures following coronary artery bypass graft surgery; and when indicated, this type of surgery can be performed with other methods of bladder drainage without increased morbidity.

Coronary Artery Bypass↗