We present a non-consanguineous family of three siblings who presented with diabetes mellitus (DM), two of whom had genetically confirmed cystic fibrosis (CF), with one pancreatic-sufficient mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (F508/R117H;IVS8-5T). A detailed history revealed family members from three successive generations diagnosed with ‘type 1’ or ‘type 2’ diabetes, leading to genetic investigations for monogenic DM. A heterozygous frameshift mutation...
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In cases where malocclusion is associated with intrinsic discoloration and/or discrepancies in tooth size and shape, such as peg-shaped laterals, orthodontics alone may not improve the aesthetics. In these situations, veneers may be considered as an adjunct to orthodontic treatment to improve the overall aesthetics. The aim of this study is to report a clinical case where an uneven occlusal plane was corrected, and the positioning of gingival zeniths, color, shape, and size of the dental elements...
The odontogenic keratocyst (OKC) may occur at any age. However, it mostly occurs during the second and third decades of life. Compared to other odontogenic cysts, this type occurs with a frequency of 5-15%. It is more common in the mandible region and in the male sex. Histologically, odontogenic keratocysts are characterized by the presence of an external connective tissue capsule, with keratinizing lining of the epithelium consisting of 5-8 cell layers with marked palisadisation of polarized basal...
Various techniques have been used for the repair of oroantral fistula (OAF) but majority of them have focused on the soft tissue closure alone, and most of the time, the osseous floor of the sinus was ignored. Existing literature supports that bone grafts supported by Buccal Fat Pad (BFP) heal well without undergoing significant resorption and necrosis. Through this case report, we wish to elaborate on the clinical success of using BFP and autogenous chin graft for simultaneous reconstruction of...
Amelogenesis imperfecta is a group of conditions caused by over 15 different genes that affects the development of dental enamel and poses some challenges to dentists. An adult patient with amelogenesis imperfecta with severe changes in tooth color and reduction of occlusal vertical dimension sought dental treatment. Diagnostic wax-up was carried out to guide the stratification of a nanoparticulate resin for the restorative treatment. Direct composite resin restorations were applied on all teeth...
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Dengue fever caused by dengue virus is a common tropical infection transmitted by the mosquitos Aedes aegypti and Aedes albopictus. Four strains of the genus flavivirus is responsible for the epidemics of varying severity. Hepatitis A caused by hepatitis A virus is spread by faecal-oral route. The culprit virus is a hepatovirus. Coinfection with dengue virus and hepatitis A virus is rare and is a diagnostic as well as management challenge to the medical professional. We report a patient who presented...
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Penetrating neck and chest trauma is a very common entity in emergency medicine that usually requires surgical treatment. Our case report illustrates the case of a 27-year-old Arabian man with hemopneumothorax...
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Abstract Background The coexistence of malignancies in a patient may be explained by the tumor-to-tumor metastasis phenomenon or multiple primary malignant tumors, both of which are not common findings. Here, we are going to present a case with coexistent papillary thyroid carcinoma and primary squamous cell carcinoma of the lung. Case presentation ...
Abstract Background A hydatidiform mole with a coexisting fetus is a rare condition that commonly occurs as either a partial mole with fetus or a twin pregnancy comprising a complete mole and normal fetus. In the former case, the fetus is triploid, and in the latter case, the fetus is diploid with different alleles from those of the mole. Because there is a difference in the persistent trophoblastic disease incidence between the...
Abstract Introduction Avascular necrosis of the femoral capital epiphysis is the most serious complication after traumatic dislocation of the hip in children. This case report discusses the localization and revascularization of the necrotic femoral head following rarely experienced traumatic open anterior hip dislocation in children. Case presentation ...
Abstract Background Psoas or epidural abscesses are often accompanied by pyogenic spondylitis and require drainage. Posterolateral percutaneous endoscopic techniques are usually used for hernia discectomy, but this approach is also useful in some cases of psoas or lumbar ventral epidural abscess. We here report a case of psoas and epidural abscesses accompanied by pyogenic spondylitis that was successfully treated by percutaneous...
Abstract Background Chronic insomnia and obstructive sleep apnea are both common sleep disorders. Chronic insomnia is thought to result from stress-related physiologic hyperarousal (somatic arousal) that makes it difficult for an individual to fall or stay asleep. Obstructive sleep apnea is thought to result from obstructive respiratory events causing arousals, sleep fragmentation, and recurrent oxygen desaturation. Although the...
Abstract Background Persistent high output is a rare but potentially serious complication of percutaneous biliary drainage. Case presentation A 68-year-old Sinhalese woman with a palliative self-expanding metal stent placed for an inoperable hilar cholangiocarcinoma presented with worsening obstructive jaundice. Ultrasonography showed intrahepatic...
Abstract Background Various antiepileptic drugs can potentially cause psychiatric side effects in patients with epilepsy, but the precise mechanism of these actions remains unknown. In recent years, the common polymorphism C677T in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has attracted attention for its role in the onset of psychiatric diseases. MTHFR and several vitamins (as cofactors) are crucial for remethylation...
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Abstract Background Sternoturnover is a surgical procedure for pectus excavatum. Cardiac surgery in patients with a history of sternoturnover has been rarely reported and is a surgical challenge because it is unknown how median sternotomy or the use of a sternal retractor affects the postoperative stability of the thorax and respiratory function. We report a successful coronary artery bypass grafting through left thoracotomy in a...
Abstract Background Traumatic extrapleural hematoma is a rare condition and is usually managed conservatively until spontaneous resolution unless active bleeding or expansion is found. Case presentation An 80-year-old man taking an anticoagulant medication was referred to our hospital after accidentally falling in a street ditch while riding...
Abstract Background Biliary atresia (BA) cases are generally not associated with congenital abnormalities. However, accurate diagnosis of BA is often challenging because the histopathological features of BA overlap with those of other pediatric liver diseases and rarely overlap with those of other genetic disorders. We experienced a rare case of BA with the histopathological finding of bile duct paucity, a gene mutation in KDM6A,...
Abstract Background Hepatocellular adenoma (HCA) is a rare liver tumor that has the potential for rupture and malignant transformation. Here, we report a case of multiple hepatocellular adenomas (HCAs) that were treated by surgical resection. Case presentation An 18-year-old man was admitted to our hospital with proteinuria. His height was 176.5 cm,...
Abstract Background A case of gastrointestinal stromal tumor (GIST) coexisting with disseminated peritoneal leiomyomatosis (DPL) is rare. We report a case of GIST coexisting with DPL. Case presentation A 50-year-old woman underwent exploratory laparoscopy under a preoperative diagnosis of gastric GIST with an ovarian tumor or peritoneal dissemination...
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Presentation of Case. Dr. Madhukar S. Patel (Surgery): A 41-year-old pregnant woman was seen in the emergency department of this hospital at 36 weeks 3 days of gestation because of abdominal pain. Six and a half months before this evaluation, when the patient was at her initial routine prenatal…
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