Genetic evaluation of patients with Alström syndrome in the Polish population.

Alström syndrome (AS) is a rare syndromic form of obesity and type 2 diabetes (T2D) in children coexisting with retinal dystrophy and disorders of many organs caused by the mutations in ALMS1 gene. Aim of this study was to identify the causative mutations in ALMS1 in a group of 12 patients of Polish origin with clinical symptoms of AS, and their 21 first-degree relatives. Using DNA sequencing, nine different mutations including three novel were identified. These mutations were not present in 212 Polish individuals with no symptoms of AS, subjected to whole-exome sequencing and collected in a national registry. Looking for genotype-phenotype relationships, we confirmed a severe phenotype in a boy with homozygous mutation in exon 16, and a relationship between a presence of T2D and mutations in exon 19. Evaluation of the type of mutation and its clinical effects gives hope for earlier diagnosis of AS in future patients and more advanced therapeutic approaches for patients with already diagnosed AS.

Blood lipid profile and BMI-Z-score in adolescents with hyperuricemia.

BACKGROUND: Numerous studies have demonstrated that elevated serum uric acid concentration (SUA) is correlated with lipid profile in hypertensive or obese patients. However, the relationship between serum uric acid levels and lipid profile in non-obese late adolescent population was not examined before. AIMS: In this study we decided to assess the potential relationship between SUA and lipid profile, according to gender in adolescents with HU. METHODS: The study group comprises 607 Polish adolescents (474 males, 133 females) with HU. Retrospective analysis included demographic, clinical, and laboratory data. Lipid profile was assessed including total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglycerides (TG), total cholesterol to HDL-C ratio (TC/HDL-C). RESULTS: In the examined group 187/607 (31%) of teenagers were diagnosed with metabolic syndrome (MetS). Median BMI-Z-score was 1.11 Q1-Q3: (-0.02-2.03) and both females and males in the upper tertile of SUA had statistically significant higher BMI-Z-score. The males in the upper tertile of serum uric acid levels also had higher values of TG and lower of HDL-C. In females, we have not found significant differences in lipid profile. Multiple regression analyses indicated that male gender, BMI-Z-score, and presence of hypertension correlated significantly with serum uric acid concentration. CONCLUSIONS: In summary, the results of our study confirm higher prevalence of hyperuricemia in males when compared to females and a stronger association of HU with BMI-Z-score and lipid profile in male adolescents. Nevertheless, multiple regression does not confirm the independent association of SUA with lipid profile.

Missed orbital wall blow-out fracture as a cause of post-enucleation socket syndrome.

BACKGROUND: Post-enucleation socket syndrome (PESS: deep upper lid sulcus, ptosis or upper lid retraction, enophthalmos and lower lid laxity) is a well-recognised complication of a volume-deficient anophthalmic socket. A patient requiring enucleation following severe ocular trauma may have an underlying orbital wall blow-out fracture which if overlooked can cause severe volume deficit with poor cosmesis and limited prosthesis motility. PURPOSE: To establish the prevalence of an undiagnosed blow-out fracture in patients with PESS and a history of relevant trauma. METHODS: Medical records and orbital computed tomography (CT) scans were reviewed for all patients presenting with PESS and a history of relevant trauma. RESULTS: Undiagnosed blow-out fractures were found in 15 (33%) of 45 patients presenting between August 1993 and December 1996. These were significant enough to warrant surgical repair in 13 (29%) patients. CONCLUSIONS: We suggest that any patient presenting with PESS and a history of relevant trauma should be considered to have an orbital wall blow-out fracture until proven otherwise by CT scanning of the orbit. Similarly any patient requiring enucleation following severe ocular trauma should undergo CT scanning to rule out a coexisting blow-out fracture which could be repaired at the time of enucleation.

Uveal effusion syndrome.

The history and clinical findings are presented of a patient who suffered from the uveal effusion syndrome over a 10-year period from 1956. The funduscopic appearance is illustrated both at the time of initial presentation and 36 years later. This condition typically affects healthy middle-aged men and causes recurrent, spontaneous, serous retinal and ciliochoroidal detachments, often resulting in significant visual impairment. Two separate hypotheses have been postulated to explain the pathogenesis of the uveal effusion syndrome, one relating to abnormally thickened sclera, the other to chronic bulbar hypotony. Both are discussed, as is the rationale behind the current management of this unusual condition.

Partly reversible visual failure with methanol toxicity.

Methanol is a highly toxic substance which is used as an industrial solvent and in automotive antifreeze. If accidentally ingested blindness or death may result. The case of a young woman who developed sudden onset of visual failure following ingestion of a methanol-fortified beverage is presented. Although she failed to seek immediate medical help visual function improved. Acute changes of bilateral optic disc hyperaemia and venous engorgement were present at initial examination. She subsequently developed optic disc atrophy together with glaucomatous-like cupping of the optic discs. The aetiology of visual failure in methanol poisoning is discussed, as are the current therapeutic guidelines in the management of acute cases.

Surveillance of surgical wound infections following open heart surgery.

OBJECTIVE: To define accurate wound infection rates for the cardiac surgery service based on site of infection and characterization as "deep" or "incisional" and to determine whether a correctable cause for an apparent increase in deep wound infection rates existed. DESIGN: Observational. SETTING: Tertiary-care teaching hospital. PARTICIPANTS: All adults undergoing open heart surgery in 1988 and 1989. INTERVENTIONS: Changed from razor to clipper preoperative hair removal in January 1989. RESULTS: Deep sternotomy wound infections decreased significantly from 1.2% in 1988 to 0.2% in 1989 (p = .010) and deep venectomy (vein donor site) wound infections declined from 1.6% to 0.4% (p = .014) during the same time period. Incisional wound infection rates did not change. Patients with deep infections more likely required readmission or operation to treat their infection than those with incisional wound infections. The percentage of gram-negative organisms causing wound infections decreased from 56.3% in 1988 to 34.7% in 1989 (p = .017). CONCLUSIONS: Preoperative hair removal using a clipper appears to have decreased the risk of deep wound infection compared with razor preparation. The dichotomous wound classification of "deep" and "incisional" distinguished between patients who required additional interventions for treatment of wound infections.

Rapid change in visual fields associated with suprasellar lymphocytic hypophysitis.

A young woman presented in the third trimester of pregnancy with a rapid onset of bitemporal hemianopia and reduced visual acuity caused by an unusual steroid responsive suprasellar tumor. A computerized tomography scan revealed a 2-cm suprasellar mass which was thought to be a tuberculum sellae meningioma. Surgery was delayed because of pregnancy. A short course of high-dose steroids was given to promote fetal lung maturity. This produced an unexpected and dramatic resolution of the field loss. As the steroid dose was reduced, the visual fields deteriorated, necessitating a craniotomy. The histology revealed lymphocytic hypophysitis, a rare but distinct clinicopathological entity affecting the anterior pituitary lobe. The significance of the suprasellar site and a possible role for the use of steroids in the preoperative management of this condition is discussed.