Intrauterine Cataract Diagnosis and Follow-up

In this article, we report a 21-gestational-week fetus diagnosed with congenital cataract by ultrasonography. The parents decided to terminate the pregnancy and asked for examination of the fetus. An amniocentesis was performed for fetal karyotyping. After termination of the pregnancy, fetal autopsy was conducted. Whole exome sequencing (Trio-WES) analysis of the mother and father was done from peripheral blood samples. In the pathologic autopsy report, bilateral anterior and posterior subcapsular cataracts were confirmed. Whole exome sequencing analysis revealed a previously unreported class 3 variant of uncertain significance (c755A>G [P.Lys252Arg]) of the CRYBB1 gene, which is associated with congenital cataract, that was homozygous in the fetus and heterozygous in the parents. The obtained result is consistent with a genetic diagnosis of isolated autosomal recessive cataract.

The determination of normal percentages of syncytiotrophoblastic knots in various regions of placenta: where to count the syncytial knots.

OBJECTIVE: The marginal, basal and subchorial regions of the placenta are considered to be more hypoxic than other regions. Therefore, it is not recommended to determine the increase in syncytiotrophoblast knots, based on the major morphological change in placental hypoxia, from the samples taken from these regions. However, the normal count of knots at various regions of placenta is not investigated. MATERIAL AND METHOD: In this study we have sampled morphologically and clinically normal placenta with eccentric cord insertion from various sites, either close to cord entrance or away from it (marginal, non-marginal basal, non-marginal subchorial, and nonmarginal midparanchymal). The number of knots was calculated on a total of at least 100 villi for each placental sample. The normal amount of knots in different regions and comparison between them were investigated. Twenty-eight placentas with eccentric cord insertion were sampled in the same manner. Hot spots from the above mentioned regions were counted in a total of 100 villi. RESULTS: No significant difference was found between the dual comparison of the mean percentages of different regions (p: 0.148). The variety of hypoxia in different regions of the placenta could not be demonstrated in this study. CONCLUSION: It is found that there is no difference in perfusion that can be morphologically demonstrated with increase in syncytiotrophoblast knot, between different regions of placenta.

General evaluation of hepatectomy and hepatocellular carcinoma cases.

OBJECTIVE: Although the clinical and histopathological findings of hepatocellular carcinoma are well described, there are few national studies. In this study, we aimed to investigate the relationship between these findings in total or partial hepatectomy specimens in our series. MATERIAL AND METHOD: We first collected 190 cases of total or partial hepatectomies performed because of hepatocellular carcinoma, cirrhosis or other disorders from the archives of Pathology. After re-examining the histopathological and clinical features such as age, gender and etiology, the relationship between them and serology results were statistically analyzed using the chi square and Multiple Comparison Tests. RESULTS: Among 190 cases, there were 168 (88.5%) total and 18 (9.5%) partial hepatectomies and 4 (2%) tumorectomy or metastasectomy cases. After gross and microscopic examination, 170 (89.5%) cases had a diagnosis of cirrhosis, 85 (44.7%) hepatocellular carcinoma, 3 parasitic cyst, 7 metastasis, 1 hepatoblastoma, 1 hepatocellular adenoma, 2 cholangiocarcinoma, 2 Budd Chiari Syndrome, 1 focal nodular hyperplasia, 1 cavernous hemangioma, and 2 acute fulminant hepatitis. Among the hepatocellular carcinoma cases, 53 had Hepatitis B virus, 15 Hepatitis C virus , 3 Hepatitis B virus and Hepatitis C virus, and 3 Hepatitis B virus and Hepatitis delta virus etiology, while 6 were alcoholic and 4 were due to other causes. Among cirrhosis patients, 84 (49.4%) had hepatocellular carcinoma. The male to female ratio of hepatocellular carcinoma cases was 74/11. The mean age was 55 and the median age 56.7. CONCLUSION: The results of this study demonstrated that the most common hepatic disorder was cirrhosis due to Hepatitis B virus in the hepatectomy specimens of our series that mostly consisted of total hepatectomies performed for transplantation where 50% had hepatocellular carcinoma.

Use of titanium mesh in laryngotracheal reconstruction: an experimental study on rabbits.

Titanium mesh may be an alternative material to be used in laryngotracheal reconstruction. Twenty New Zealand rabbits were divided into two groups. Group A underwent laryngotracheoplasty with titanium mesh-buccal mucosa-muscle complex, and Group B received auricular cartilage grafts. All animals survived without complications. The animals were killed at 60 days, and laryngotracheal regions were evaluated. There was no subglottic collapse at physiologic and supraphysiologic negative airway pressures in Group A and mild-moderate collapse in Group B. Macroscopically the average antero-posterior and lateral diameters were not statistically different among two groups. Light microscopic examination revealed no fibrosis, necrosis or new cartilage formation in both groups. Inflammation and granulation were more pronounced in Group A. The lumens in both groups were moderately obstructed. Reconstruction of the upper airway with titanium mesh may be used in very selected cases where autologous grafting materials are inadequate and unsatisfactory.