Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia

We describe a case of twins with sporadic Gorlin syndrome. Both twins had common Gorlin syndrome features including calcification of the falx cerebri, multiple jaw keratocysts, and multiple basal cell carcinomas, but with different expressivity. One brother also had benign testicular mesothelioma. We propose this tumor type as a possible new feature of Gorlin syndrome. Gorlin syndrome is a rare autosomal dominant disorder characterized by both developmental abnormalities and cancer predisposition, with variable expression of various developmental abnormalities and different types of tumors. The syndrome is primarily caused by mutations in the Patched 1 (PTCH1) gene, although rare mutations of Patched 2 (PTCH2) or Suppressor of Fused (SUFU) genes have also been found. Neither founder mutations nor hot spot locations have been described for PTCH1 in Gorlin syndrome patients. Although de novo mutations of the PTCH1 gene occur in almost 50% of Gorlin syndrome cases, there are a few recurrent mutations. Our twin patients were carriers of a de novo mutation in the PTCH1 gene, c.3364_3365delAT (p.Met1122ValfsX22). This is, to our knowledge, the first Gorlin syndrome-causing mutation that has been reported four independent times in distant geographical locations. Therefore, we propose the location of the described mutation as a potential hot spot for mutations in PTCH1

Waldenströmova makroglobulinemija kao dijagnostički problem: prikaz slučaja

Waldenström’s macroglobulinemia is a distinct clinicopathologic entity defined as a B-cell neoplasm characterized by lymphoplasmacytic infiltrate in the bone marrow, with an associated immunoglobulin (Ig) M paraprotein. Clinical manifestations are due to deposition of IgM in the liver, spleen, and/or lymph nodes, so it presents with anemia, hyperviscosity, lymphadenopathy, hepatomegaly, splenomegaly and neurologic symptoms. The main diagnostic criteria are a typical peak on serum protein electrophoresis and malignant cells in bone marrow biopsy samples. There is no standard therapy for the treatment of symptomatic Waldenström’s macroglobulinemia and no agents have been specifically approved for this disease, but initial treatment usually starts with the monoclonal anti-CD20 antibody rituximab, either alone or in combination with other agents, rather than chemotherapy alone. This article confirms that, despite the existence of more modern imaging methods, ultrasonography still has a significant diagnostic role.Waldenströmova makroglobulinemija je specifičan kliničkopatološki entitet definiran kao B stanična neoplazma obilježena limfoplazmatskim infiltratima u koštanoj srži udruženim s paraproteinom imunoglobulinom (Ig) M. Kliničke manifestacije nastaju kao posljedica taloženja IgM u jetri, slezeni i/ili limfnim čvorovima, tako da se bolest manifestira anemijom, hiperviskozitetom, limfadenopatijom, hepatomegalijom, splenomegalijom i neurološkim simptomima. Glavni dijagnostički kriteriji su tipični vršak u elektroforezi serumskih proteina te maligne stanice u uzorcima biopsije koštane srži. Ne postoji standardna terapija za liječenje simptomatske Waldenströmove makroglobulinemije i nema lijekova specifično odobrenih za ovu bolest, no liječenje najčešće ne započinje kemoterapijom, nego monoklonskim anti-CD 20 antitijelom rituksimabom kao monoterapijom ili u kombinaciji s drugim lijekovima. Ovaj članak potvrđuje da unatoč postojanju modernih metoda prikazivanja ultrazvuk i dalje ima značajnu dijagnostičku ulogu

Sekundarna arterijsko-enterična fistula: prikaz slučaja i pregled literature

Arterio-enteric fistula is a rare, but potentially deadly cause of gastrointestinal bleeding. The disease occurs in two forms: primary as a result of atherosclerotic aortic aneurysm, aortitis, trauma, radiation, tumor invasion or penetrating ulcer, and secondary as a consequence of surgical aortal reconstruction. The clinical manifestation is mostly gastrointestinal bleeding, rarely back pain, fever and sepsis. Computed tomography with contrast medium is the most suitable diagnostic test, however, the diagnosis frequently requires explorative laparotomy. A case is presented of secondary arterio-enteric fistula, found two years after surgical treatment of chronic pancreatitis with pseudocystojejunostomy, which clinically manifested with gastrointestinal bleeding. Although there was strong suspicion of arterio-enteric fistula, the diagnosis was not verified by routine workup, but only on explorative laparotomy.Arterijsko-enterična fistula je rijedak, ali potencijalno smrtonosan uzrok krvarenja iz probavnog sustava. Bolest se javlja u dva oblika: kao primarna, nastala kao rezultat aterosklerotski promijenjene aneurizme aorte, aortitisa, traume, zračenja, invazije tumora ili penetrirajućeg ulkusa, te kao sekundarna, odnosno posljedica kirurške rekonstrukcije aorte. Klinički se najčešće manifestira u vidu krvarenja iz probavnog sustava, rjeđe bolovima u leđima, vrućicom i sepsom. Najprikladniji dijagnostički test je kompjutorizirana tomografija, no sama dijagnoza se često postavlja tek eksploracijskom laparotomijom. Prikazuje se slučaj sekundarne arterijsko-enterične fistule nađene dvije godine nakon kirurškog liječenja kroničnog pankreatitisa pseudocistojejunostomijom, koja se klinički manifestirala gastrointestinalnim krvarenjem. Iako je postojala velika sumnja na arterijsko-enteričnu fistulu dijagnoza se nije mogla potvrditi standardnim dijagnostičkim postupcima, nego tek na eksploracijskoj laparotomiji

A First Case of Endoscopical Removal of an Eroded Adjustable Gastric Band in Croatia

Laparoscopic gastric banding (LAGB) is one of the most common surgical procedures in the treatment of morbid obesity since it provides good long-term outcomes in weight loss and decrease of comorbidities associated with obesity. Although the procedure has low morbidity and almost none-existing mortality, certain complications can occur. Erosion of the band into the gastric wall is one of the rare complications in LAGB. The reported incidence varies from 1% to 11%, however the largest study reported an incidence of 1,6%. This is in accordance with the incidence in our Centre for obesity, where only one case of erosion occurred among 112 operative procedures. The aim of this paper is to present a patient with gastric band erosion and it’s removal by using the endoscopic techniques as a minimally invasive management method

Changes in pulmonary artery systolic pressure correlate with radiographic severity and peripheral oxygenation in adults with community-acquired pneumonia

The aim of this prospective observational study was to evaluate the relationship between changes in pulmonary artery systolic pressure (ΔPASP) and both severity of community-acquired pneumonia (CAP) and changes in peripheral blood oxygen partial pressure (PaO2 ). Seventy-five consecutive adult patients hospitalized for treatment of CAP were recruited in this single-center cohort study. Doppler echocardiographic measurement of PASP was performed by 2 staff cardiologists. Follow-up assessment was performed within 2 to 4 weeks of ending antibiotic treatment at radiographic resolution of CAP. Fifteen patients were excluded during follow-up due to confirmation of chronic obstructive pulmonary disease. Pneumonia was unilateral in 40 (66.7%) and bilateral in 20 (33.3%) patients. Radiographic extent of pneumonia involved 2 pulmonary segments in 31 patients (51.7%), 3 to 5 pulmonary segments in 25 (41.7%), and 6 pulmonary segments in 4 patients (6.6%). ΔPASP between hospital admission and follow-up correlated with the number of pulmonary segments involved (Rho = 0.953 ; P < .001) and PaO2 (Rho = -0.667 ; P < .001). The maximum PASP was greater during pneumonia than after resolution (34.82 ± 3.96 vs. 22.67 ± 4.04, P < .001). Changes in PASP strongly correlated with radiological severity of CAP and PaO2 . During pneumonia, PASP appeared increased without significant change in left ventricular filling pressures. This suggests that disease-related changes in lung tissue caused by pneumonia may easily and reproducibly be assessed using conventional noninvasive bedside diagnostics such as echocardiography and arterial blood gas analysis

Portal systemic shunt between the hepatic portal vein and right renal vein in a patient with multifocal hepatocellular carcinoma: Case report

Portal hypertension is a clinical syndrome characterized by the development of collateral circulation and portosystemic shunts, as well as ascites and hepatic encephalopathy. We present the case of a large portosystemic shunt between the hepatic portal vein and aneurysmal right renal vein in a cirrhotic 64‐year‐old man with thrombosis of the portal vein and hepatocellular carcinoma. This is a very rare clinical manifestation which, to our knowledge, has been described only once previously in the literature