Aim
Progressive familial intrahepatic cholestasis (PFIC) is a hereditary disease with severe cholestasis progressing to cirrhosis and chronic renal failure usually during the first decade. An ...alternative approach is partial diversion of bile. The aim of this study is to describe four patients with PFIC who underwent partial internal biliary diversion (PIBD).
Methods
Review of three patients, their clinical, laboratory and histologic workups to evaluate the short-term effects of PFIC, a 1-year follow-up. For PIBD, a conduit is performed between the terminolateral side of the gall bladder and distal colon using a segment of jejunum, to divert the biliary flow from the enterohepatic cycle without any external stoma.
Results
All four patients were presented with jaundice, pruritus, hepatomegaly, sleep disturbance. They fulfilled the criteria for PFIC. The surgery was uneventful. At follow-up, biochemical parameters improved significantly, growth was regained, relief in pruritus, sleeping pattern was normalized.
Conclusions
Partial internal biliary diversion had a dramatic effect on cholestasis, growth, sleeping and biochemical parameters. It also avoids the disadvantages of a permanent stoma. We believe that it is one of the best surgical procedures ever described for PFIC. Since long-term results of partial external biliary diversion on liver histopathology are successful, we hope that our long-term results will also be similar.
Abstract
Aim
The data of the Turkish Esophageal Atresia Registry (TEAR) was evaluated to define the survival rate and risk factors of mortality in infants with esophageal atresia (EA).
Methods
The ...data of 389 cases registered by 23 centers between 2014 and 2018 were evaluated for demographic features, associated anomalies, surgical treatment and mortality-related outcome. Each parameter was evaluated for cases with mortality (CM) and compared with the results of survivors. Also, prognostic factors were investigated in CM.
Results
The overall survival rate was 81.09% and the mortality was 19.02% (n = 74). The male/female ratio was 1:1 in CM and 1.2:1 in survivors. The mean weight and height measurements in CM were lower than in survivors (1956 ± 658 g- 43.2 ± 5.7 cm vs 2534 ± 609 g-46.4 ± 4.3 cm) (P < 0.05). The incidence of associated anomalies was 90.6% in CM and significantly higher than survivors (59.6%) (P < 0.05). Neurological, cardiovascular, vertebral, and extremity anomalies were significantly higher in CM (P < 0.001). The most common type of anomaly was EA with distal fistula 89.2% in CM and 74.6% in survivors. The rate of primary anastomosis was also significantly lower in CM (67.6% vs 84.3%, P < 0.05). The gap length did not show statistical difference between CM and survivors (P > 0.05). Tube feeding was more common in CM and the incidence of full oral feedings was significantly higher in survivors (P < 0.01). According to the Spitz classification, the survival rate was 87.1% in Class I, 55.3% in Class II, and 16.7% in Class III. The most common causes of mortality were associated with cardiovascular disease, pneumonia, and sepsis.
Conclusion
The majority of national TEAR data comes from tertiary healthcare centers in Turkey. Therefore, the slightly increased mortality rates could be related to the inclusion of more complex and complicated cases. Birth weight–height, associated anomalies, and Spitz classification are significant risk factors of mortality in cases with EA.
Phyllodes tumor is a rare primary tumor of the breast. In children and adolescents, it is even rarer with only 20 cases, treatment of which vary in the literature. Herein we report the case of a ...13-year-old female patient with a giant benign phyllodes tumor eroding the bottom of the breast skin and causing nipple retraction. We performed breast conservative surgery by mobilizing the areola, using skin flaps and inserting an implant.
Breast malignancy, including phyllodes tumor (PT), is very rare in adolescents. PT, previously called cystosarcoma phylloides, consists of leaf-like fronds, from which the tumor gets its name (1, 2). Although PT is most often seen in the fourth decade of life, almost 20 cases have been reported in the adolescent period, most of which are benign. The histologic types are benign, borderline, and malignant, depending on the mitotic rate of the tumor (3, 4).
Phyllodes tumor is a rare primary tumor of the breast. In children and adolescents, it is even rarer with only 20 cases, treatment of which vary in the literature. Herein we report the case of a ...13-year-old female patient with a giant benign phyllodes tumor eroding the bottom of the breast skin and causing nipple retraction. We performed breast conservative surgery by mobilizing the areola, using skin flaps and inserting an implant. Breast malignancy, including phyllodes tumor (PT), is very rare in adolescents. PT, previously called cystosarcoma phylloides, consists of leaf-like fronds, from which the tumor gets its name (1, 2). Although PT is most often seen in the fourth decade of life, almost 20 cases have been reported in the adolescent period, most of which are benign. The histologic types are benign, borderline, and malignant, depending on the mitotic rate of the tumor (3, 4).
Upstream transcription factor 1 (USF1) regulates the transcription of many genes related to cell and organism survival processes such as stress and immune response, regulation of cellular senesce, ...and carcinogenesis. In this study, our aim was to investigate the effect of USF1 single nucleotide variations (SNVs) on longevity in the Vitality 90+ study, a population‐based study of nonagenarians (90 ±1 years of age) living in the area of Tampere municipality, Finland. Altogether 509 voluntary nonagenarians (115 males, 394 females) were genotyped using the 5′‐nuclease assay for rs2774279G > A, rs2516839T > C, and rs2073658C > T SNVs. During the 4 years of follow‐up, the total mortality rate was 64.2%. In the study, we found that the frequency of C‐allele of rs2516839 among nonsurviving nonagenarians (52.5%) was higher than those who survived (41.2%; P = 0.0006, odds ratio = 1.575, 95% confidence interval CI: 1.215–2.041). Furthermore, carriage of this variation and its haplotypes had a significant gender by genotype interaction (P < 0.05) on mortality. Kaplan‐Meier log‐rank test during 4‐years of follow‐up showed significantly higher mortality rate in the case of CC genotype carriage than other genotype carriages in nonagenarian women (P < 0.0001). In addition, after adjusting for age in Cox regression analysis, cardiovascular disease, diabetes, infectious disease, dementia, and living place (nursing home or home), CC genotype of rs2516839T > C was found to be associated with shorter life expectancy in nonagenarian women (hazard ratio = 2.27; 95% CI, 1.34–3.85 P = 0.002). In conclusion, rs2516839 variation and related haplotypes of the USF1 gene are strongly related to all‐cause mortality in Finnish nonagenarians, especially among women.
Background and purpose: To evaluate the phenotype and the frequencies of mutations in PRKN, DJ1 and PINK1 genes in patients with Parkinson disease (PD) in Turkey.
Methods: Eighty‐six patients from ...77 PD families participated in the study. Seventy‐four families were originating from Turkey, two families from Greece and one family from Bulgaria. All patients underwent detailed neurological examination. PRKN, PINK1 and DJ1 genes were sequenced, and dosage analysis was performed by multiplex ligation‐dependent probe amplification.
Results: Sixteen patients with PD were found to carry homozygous (n = 14) or compound heterozygous (n = 2) PRKN mutations. We identified exon rearrangements, three point mutations and one new point mutation in exon 2 (p.K27del). In two families, two new PINK1 point mutations (L31X and P416L) were identified. No pathogenic mutations were found in DJ1 gene. Clinical phenotypes of PRKN patients were comparable to previously described features, but only in four of 13 families, the pedigree structure was clearly consistent with an autosomal recessive (AR) mode of inheritance in comparison with nine families where also different pattern of transmission could have been possible.
Conclusions: Our data suggest that the PRKN gene mutation is the most frequent form of ARPD in Turkey. The proportion of mutations with regard to the age of onset in our population is in the range of those previously described, but our pedigrees are characterized by high rate of consanguinity, which might explain the high proportion of families with homozygous mutations and of patients in more than one generation. Pathogenic DJ1 mutations do not seem to play a major role in Turkey.
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