Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.

Background: Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet disorder characterized by bleeding diathesis, oculocutaneous albinism (OCA) and a myriad of often-serious clinical complications. Methods: We established the clinical and laboratory phenotype and genotype of six unrelated pedigrees comprising ten patients with clinical suspicion of HPS; including platelet aggregation, flow cytometry, platelet dense granule content, electron microscopy and high-throughput sequencing (HTS). Results: The clinical presentation showed significant heterogeneity and no clear phenotype-genotype correlations. HTS revealed two known and three novel disease-causing variants. The Spanish patients carried a homozygous p.Pro685Leufs17* deletion (n = 2) in HPS4, or the novel p.Arg822* homozygous variant (n = 1) in HPS3. In the case of two Turkish sisters, a novel missense homozygous HPS4 variant (p.Leu91Pro) was found. In two Portuguese families, genetic studies confirmed a previously reported nonsense variant (p.Gln103*) in DTNBP1 in three patients and a novel duplication (p.Leu22Argfs*33) in HPS6 in two unrelated patients. Conclusions: Our findings expand the mutational spectrum of HPS, which may help in investigating phenotype-genotype relationships and assist genetic counselling for affected individuals. This approach is a proof of principle that HTS can be considered and used in the first-line diagnosis of patients with biological and clinical manifestations suggestive of HPS. Key messages We established the relationships between the clinical and laboratory phenotype and genotype of six unrelated pedigrees comprising ten patients with clinical suspicion of HPS. Molecular analysis is useful in confirming the diagnosis and may offer some prognostic information that will aid in optimizing monitoring and surveillance for early detection of end-organ damage. This approach is a proof of principle that HTS can be considered and used in the first-line diagnosis of patients with biological and clinical manifestations suggestive of HPS.

Incidental gallbladder cancer at cholecystectomy.

BACKGROUND: Gallbladder tumours rank fifth in the world among gastrointestinal system tumours. Coincidental gallbladder tumours are diagnosed during cholecystectomies, or by examining the cholecystectomy material. AIMS: In this study, we aimed to evaluate the incidence of gallbladder cancer among patients undergoing cholecystectomies due to gallbladder disease. STUDY DESIGN: Retrospective study METHODS: The files of 341 patients who had undergone routine cholecystectomy operations between January 2013 and March 2016 were reviewed, and their pathology results were recorded. Those patients with gallbladder carcinomas were evaluated in terms of age, gender, preoperative findings, existing symptoms, radiological findings, surgical findings and follow-up. The cancer invasion depth was classified according to the American Joint Commission on Cancer (AJCC) atlas, and this study was approved by the ethical committee of our university. RESULTS: Among the 341 patients who participated in this study, 253 (74.41%) were female, 88 (25.80%) were male, and their average age was 49.61 years old (17-86). Seven of the patients (2.05%) had gallbladder tumours; six of which were female, one was male and their average age was 67.71 years old (62-76). One tumour was diagnosed as a frozen specimen during the operation, while the others were diagnosed during the postoperation phase. Three of the patients had T1b and four had T2 tumours. CONCLUSION: Gallbladder tumours detected incidentally could extend survival rates with proper surgical intervention and chemotherapy. The possibility of a tumour should not be dismissed in those patients with advanced age, females or patients with gallbladder stones. Frozen specimens should be created during a cholecystectomy, and if there is any doubt about the diagnosis, a postoperative histopathological examination of the gallbladder should be conducted. KEY WORDS: Cholecystectomy, Gall bladder stone, Incidental gallbladder carcinoma.

Can ultrasonic surgical devices be used to close the appendicular stump?

Laparoscopic appendectomy is increasingly being performed because of its quick recovery time, low instance of wound infection, and early return of patients to home and work. Operating time should be short yet safe. Therefore, in this study, we compared the effects of various sealing systems on the length of surgery and examined whether these systems could be used to separate the appendix from its stump successfully. This prospective and randomized ex vivo study was conducted on 20 consecutive patients diagnosed with acute appendicitis. All patients underwent classical open appendectomy. The patients were classified into two groups according to the type of sealing system used. The LigaSure® system was used for coagulation in Group L and the Harmonic® system in Group H. After coagulation, a pressure system was used to evaluate the closure of the appendix. Results showed that the use of ultrasonic instruments alone to close the appendiceal stump caused an incomplete closure. KEY WORDS: Appendicular stump, Laparoscopic appendectomy.

Ultrasonography in diagnosis of acute appendicitis.

PURPOSE: Acute appendicitis is the most common surgical abdominal emergency. In the early diagnosis of acute appendicitis, the fact that there is no a sign which could be a reliable indicator in most of the patients increases the complications. In this study we aimed to search the relation between Ultrasonography(US) findings in patients with diagnosis of acute appendicitis and postoperative histopathologic investigation on remoced appendix.. MATERIALS AND METHODS: The files of 174 patients who came in our emergency department with lower right abdominal pain were studied retrospectively from January 2013 to May 2014. Of them, 26 patients were excluded, because these patients were not studied with US. US findings and histopathology reports of 148 patients with suspected acute appendicitis and studies preoperatively with abdominal US were enrolled. Greater than 6-mm diameter of the appendix under compression was accepted as positive sign of appandicitis in US. The demographic characteristics of the patients, US findings (acut appendicitis or not) and the pathology results were recorded on the standard proform. RESULTS: Of these 148 patients, 100 were acute appendicitis in preoperative US, and of these 100 patients, 93 histopathologic reports were acute appendicitis, 7 were normal appendices. The sensitivity of US was 75.6 % and specificity was 72 %. Positive predictive value (PPV) was 93 %, negative predictive value (NPV) was 14.6 % and the accuracy of US value was 81.7%. As a result, although US in diagnosis of acute appendicitis is a reliable technique, negative result doesn't mean no acute appendicitis. In order to determine an accurate diagnosis of acute appendicitis clinical and laboratoary findings should be assessed together. KEY WORDS: Abdominal pain, Acute appendicitis, Ultrasonography.

Minimal effective dose of povidone-iodine in abdominal surgery Our clinical experience.

UNLABELLED: The aim of this study is to evaluate the thyroid function tests in order to examine whether 10 % of Povidone-Iodine(PI), the medication we applied in 1/5 ratio diluted with 0.9 %NaCl, joins the systemic circulation during clean contaminated, contaminated and dirty operations for solid organ hydatid cysts in abdominal area to avoid abscess formation and spreading. 7 men and 6 women were included to the present study, prospectively. The mean age was 33.69(± 13.49). TSH, free T3 (fT3) and free T4 (fT4) hormone levels were measured before the operation and at the third day of postoperative period. Amount of used povidone-iodine for patients was recorded. As a result of statistical analysis applied, the preoperative and post operative values were not significantly different regarding with the measured hormone levels (preTSH vs postTSH: p= 0.984; prefT3 vs postfT3: p= 0.101; prefT4 vs postfT4: p=0.146). Thus, it has been shown that the dose we used is effective, and it does not enters at all or at quite low levels into the systemic circulation. Patients whom this application performed, abscess and intestinal adhesions have not been observed in our clinical experience. We recommend the use of suggested doses of Povidone-Iodine in the presence of intraabdominal perforation and abscess or in cases such as carrying a risk of cyst spreading to intraabdominal area in hydatid cysts. KEY WORDS: Povidone-iodine, Surgical adhesions, Surgical wound infections, Thyroid function tests.

The effects of lycopene on intestinal injury due to methotrexate in rats.

OBJECTIVE: The aim of this study was to investigate the effects of lycopene (Lyc) on methotrexate (Mtx)-induced intestinal damage in rats. METHOD: Twenty-eight male Sprague Dawley rats were divided into four equal groups: control, Mtx, Lyc, and Mtx-L. CONTROL GROUP: Rats were given only the vehicle. Lyc group: Rats were given Lyc (10 mg/kg) with corn oil by oral gavage for 10 days. Mtx group: Rats were injected intraperitoneally with a single dose of 20 mg/kg of Mtx and given corn oil by oral gavage. Mtx-L group: Rats were treated with Lyc (10 mg/kg) for 10 days after a single dose of Mtx (20 mg/kg). All of the rats were euthanized using terminal anesthesia, and the intestinal tissues were removed for histological examination and for pro-inflammatory cytokine measurement (tumor necrosis factor alpha (TNF-α), interleukin-1 beta (IL-1ß)), total oxidative status (TOS), total antioxidant capacity (TAC), and oxidative stress index (OSI). RESULTS: Mtx administration increased histopathological damage and increased TNF-α, IL-1ß, TOS, TAC, and OSI levels in the small intestine tissues. Lyc therapy applied to the Mtx-L group provided significant improvement in all parameters of histopathological damage to the small intestine and significantly reduced the levels of IL-1ß, TOS, and OSI in the intestinal tissues. CONCLUSIONS: The results of this study indicate that Lyc might be useful for protecting intestinal damage induced by Mtx in rats by reducing the increased oxidative stress and pro-inflammatory cytokine (IL-1ß) levels.

Surgical treatment of hepatic hydatid cysts A retrospective analysis of 425 patients.

BACKGROUND: We aimed to retrospectively analyze patients who underwent surgical treatment in our clinic for hydatid cysts in terms of the surgical methods implemented and their results. METHODS: Archival records of the patients who underwent surgery for the treatment of hydatid cysts between 2007 and 2014 were analyzed retrospectively. RESULTS: The records of 425 patients who underwent surgery with varying ages of 16 to 88 years (mean: 44.5) were obtained. Among the patients, 33.9% (n=144) were male and 66.1% (n=281) were female. The most frequent symptoms were abdominal pain (46.4%) and dyspepsia (30.9%). About 79.5% of the patients had hydatid cysts in their livers, and 66.8% of these cysts were on the right lobe of the liver. Surgical intervention was performed on 513 cysts. The average diameter of these cysts was 8.3 cm. About 85.5% (n= 438) of the interventions implemented were partial cystectomy. Laparotomy was performed through the right subcostal incision on 81% (n=345) of the patients who underwent conventional surgery. The most frequently encountered complication was biliary fistula. The mortality rate was 0%. CONCLUSIONS: The results showed that most of the cases were uncomplicated isolated hepatic hydatid cysts frequently found on the right lobe of the liver. The most frequently implemented surgical procedure was partial cystectomy. This procedure was simple, fast and applicable for uncomplicated hepatic hydatid cysts. KEY WORDS: Hepatic hydatid cyst, Mortality, Partial cystectomy.

Efficacy of diffusion-weighted magnetic resonance imaging in follow-up patients treated with open partial cystectomy of liver hydatid cysts.

BACKGROUND AND OBJECTIVE: The aim of this study was to evaluate the efficacy of DWI in differentiation of patients with residual cavity and type 1 hydatid cyst (HC) in the liver. METHODS: 32 patients were included. 12 of these patients had type 1 HC and the remainders (n = 20) had postoperative residual cavities. In all patients, axial T2-weighted and DWI images were obtained. An apparent diffusion coefficient (ADC) map of the images was automatically generated and the ADC values were measured on this map for all patients. Mann-Whitney U test was used for comparison of continuous variables between two groups. RESULTS: The mean diameters of type 1 hydatid cyst and residual cavity groups were 83.42 mm, 49.30 mm, respectively (P = 0.001). There were no significant differences in gender and age between the groups (both P > 0.05). The mean ADC values of type 1 hydatid cyst and residual cavity groups were 2.58 ± 0.13 × 10(-3) s/mm(2), 2.58 ± 0.16 × 10(-3) s/mm(2), respectively (P = 0.953). CONCLUSION: DWI might not be suitable to differentiate the postoperative residual cavity from the type 1 hydatid cyst in the liver due to similarity of ADC values between postoperative residual cavity and type 1 hydatid cyst.

Umbilical trocar site closure with Berci's needle after laparoscopic cholecystectomy.

BACKGROUND/AIMS: The umbilical region is particularly susceptible for development of incisional hernia after laparoscopic cholecystectomy (LC). To evaluate the effects of port-closure techniques on the complications seen after umbilical port-site closure, we compared closure with Berci's needle and the standard technique of a hand-sutured closure. METHODOLOGY: A hundred patients underwent LC were randomly divided into two groups. We evaluated the required time for closure, the security of techniques and the factors affecting postoperative complications for both closure groups in a prospective manner. RESULTS: Closure of the umbilical port site was performed faster with the Berci's needle compared to standard hand-sutured technique. Postoperative hospital stay and complication rates were not altered significantly depend on the closure technique. Skin dimpling on the trocar site was observed predominantly after closure with Berci's needle. Spontaneous improvement on skin dimpling was observed within the 2 weeks after operation in all patients. During the follow-up period, there was no trocar site hernia observed in the study group. CONCLUSIONS: Closure of the umbilical port site with Berci's needle is found as an effective and safe method for laparoscopic cholecystectomy.

Leukocytoclastic vasculitis: a rare manifestation of propylthiouracil hypersensitivity.

OBJECTIVE: We report a case of leukocytoclastic vasculitis as a manifestation of propylthiouracil hypersensitivity. CLINICAL PRESENTATION AND INTERVENTION: A 66-year-old woman with a history of a toxic adenoma was referred for evaluation of a purpuric rash on the legs and buttocks bilaterally. She was biochemically hyperthyroid. Biopsy of the skin lesions revealed leukocytoclastic vasculitis. Propylthiouracil therapy was discontinued, and methimazole started. The purpuric rash resolved and surgical treatment for toxic adenoma resulted in euthyroid state. CONCLUSION: This report indicated that leukocytoclastic vasculitis should be considered in the differential diagnosis of patients with a vasculitic rash. The discontinuation of the propylthiouracil was associated with disappearance of the lesions.

Epinephrine-secreting cystic pheochromocytoma presenting with an incidental adrenal mass: a case report and a review of the literature.

Cystic adrenal masses are a relatively rare condition, and are usually nonfunctioning and asymptomatic. Differential diagnosis includes pheochromocytoma (PHEO) and adrenal carcinoma; 8-10% of patients with PHEO may be completely asymptomatic. Moreover, fewer than 10% of PHEOs secrete pure epinephrine. We report a case of a E-secreting pure cystic PHEO presenting with an incidental adrenal mass. A 49-year-old Turkish woman was hospitalized at Farabi Hospital for further examinations of a right adrenal cystic mass with a thick wall that was incidentally discovered by abdominal ultrasonography during examination for nausea, vomiting, headache, and angina-like chest pain in another hospital. On admission, her blood pressure was 100/60 mmHg. Tension Holter monitoring revealed paroximal hypertension (178/136 mmHg) and hypotension (78/54 mmHg) attacks. Of urinary catecholamines and its metabolites, only urine metanephrine was markedly increased, despite a urine epinephrine level near the upper limit of normal ranges. Abdominal computed tomography and magnetic resonance imaging studies revealed a cystic round tumor approx 5 cm in diameter, located in the right adrenal gland. Right adrenalectomy was performed; the surgical specimen revealed pure cystic PHEO. Postoperatively, the urine metanephrine level returned to normal range and urine epineprine level was decreased approx 60%. In conclusion, a diagnosis of E-secreting PHEO should be considered in patients with nonspecific symptoms, presenting with an incidental cystic adrenal mass, even in the absence of hypertension.