NOD2 Genes Mutation in a Blau Syndrome Accompany with Congenital Hyperuricemia: A Case Report

Rationale: Blau syndrome (BS) is a chronic auto-inflammatory granulomatous disorder associated with the nucleotide-binding oligomerization domain-containing 2 (NOD2) gene mutations. Gene mutation is one cause of congenital hyperuricemia, However, the relationship between NOD2 and hyperuricemia was unknown. Patient concerns: A 3.5-year-old girl was admitted to hospital because of pain in the left calf and red eyes, otherwise, she suffered from skin rash, and skin cysts in the wrist and ankle joints before.Diagnoses: The girl was diagnosed with sporadic BS (SBS) accompanied with congenital hyperuricemia according to her clinical presentation and gene mutation.Interventions: The patient received prednisolone combined with adalimumab and methotrexate for controlling SBS. Oral febuxostat to alleviate uric acid levels. Outcomes: Her serum uric acid decreased to normal levels after 2 weeks with oral febuxostat tablet. Four months following the treatment, the number of cysts was decreased and ocular damage was not progressed. Lessions: Blau syndrome is a relatively new entity that clinical spectrum continues to expand. This patient provides some information, which would be assist the diagnosis.

COVID-19 IN A PATIENT WITH HIV AND KAPOSI SARCOMA

A 53 year old male diagnosed with HIV, SARS-CoV-2 and Kaposi sarcoma developed a purple-brown maculopapular rash on the left calf approximately 6 months before hospitalization and was diagnosed with venous ulcer. The lesions grew in size, spread on the whole body and also appeared on the palate. During this time the patient did not ask for a second opinion and was not monitored by a medical specialist. In December 2020, he developed a severe form of COVID-19 with acute respiratory failure and was admitted to the hospital. He was simultaneously diagnosed with HIV and severe immunosuppression. The skin biopsy confirmed Kaposi sarcoma in the nodular stage. Antiretroviral therapy (ART) was initiated and the patient later received liposomal doxorubicin chemotherapy. The patient slowly recovered whilst showing improvement of his clinical condition and immunological status.

Lung metastasis induced chronic compartment syndrome of the lower leg

<p class="abstract">Compartment syndrome occurs when the pressure within a defined compartmental space increases above a critical pressure threshold. Lung cancer is one of the world's most frequently diagnosed cancer whose metastases are rare cause of compartment syndrome. We present a 50 year old male patient who was admitted to our emergency department due to painful left lower leg, swelling and paresthesia of the medial side of the foot that lasted about 2 months back. The diagnosis of metastatic lung adenocarcinoma was set 9 months earlier. Physical examination revealed an ill-defined, tense, and tender swelling left calf and X-ray images confirmed periosteal reaction on all four cortices of both bones without osteolytic lesions. After an adequate laboratory analyses and preoperative preparation, debridement with biopsy and fasciotomy was performed. Histopathological evaluation showed necrotic tumor tissue that morphologically and immunohistochemically corresponds to lung cancer. We performed an above knee amputation and the next day, the patient was discharged home, due to his personal request.</p>

Compartment syndrome: a rare complication following laparoscopic colorectal surgery

We present a 71-year-old man who developed left calf pain after an elective laparoscopic assisted anterior resection. A clinical picture with a raised creatine kinase and negative Doppler ultrasound was suggestive of compartment syndrome. Successful surgical management was performed with two incisional fasciotomies to release all four compartments of the left leg. The patient recovered well postoperatively. The lateral incision was closed primarily while the medial incision required vacuum-assisted closure dressings and healed by secondary intention. Neither wound required skin grafts. The patient recovered well but had an extended hospital stay due to extensive physiotherapy requirements and mild foot drop. This report is intended as a guide for clinicians when considering differentials in calf pain following surgery and to keep in mind the small risk of developing compartment syndrome after pelvic surgery.

The effect of 12-week regular zumba exercises on antropometric properties

The aim of this study was to analyze the effects of 12-week regular zumba exercises on antropometric properties. A total of 20 women who participated in the study were consisted of 10 for experimental group and 10 for control group with a mean age of 38.25 ± 4.22 who performed regular zumba exercise for 12 weeks. In the research, two measurements were taken as pre and post tests. In the study, body fat percentage measurements were taken by bioelectrical impedance analyses method and ciccumference measurements were taken by tape measure. The data obtained at the end of the research were evaluated in SPSS program. Arithmetic mean, standard deviation values of the measurements, intra and intergroup differences and percentage development differences were obtained. According to the findings of the research, a significant difference of p<0.001 value has been detected, as a result of the measurements taken for the body weight, BMI, BFB, waist, hip, abdomen, chest, lower chest, right leg, left leg, right calf, left calf, right arm and left arm measurements. With regard to the hip circumference, no significant difference has been detected between the groups. The change rates were observed within a 12-week period are as follows: 4,80% in the body weight, 4,87% in BMI, 5,75% in the BFP, 3,82% in the waist, 3,91% in the hip, 3,91% in the abdomen, 3,88% in the hip, 2,69% in the chest, 4,01% in the lower chest, 5,07% in the right leg, 4,76% in the left leg, 5,44% in the right calf, 5% in the left calf, 4,41% in the right arm and 3,78% in the left arm. A significant difference was found at the p <0.001 level in the first and last measurements of all variables of Zumba group. In conclusion, it can be said that 12-week regular Zumba exercises have effects on the reduction of Antropemetric properties. ​Extended English summary is in the end of Full Text PDF (TURKISH) file. Özet Bu araştırma düzenli zumba egzersizlerinin antropometrik özellikler üzerine etkisini incelemek amacıyla yapılmıştır. Araştırmaya 12 hafta düzenli zumba egzersizi yapan ve yaş ortalaması 38,25±4,22 olan 10 deney grubu ve 10 kontrol grubu olmak üzere toplam 20 kadın katılmıştır. Araştırmada ön ve son test olmak üzere 2 ölçüm alınmıştır. Araştırmada vücut yağ yüzdesi ölçümleri biyoelektrik impedans yöntemi ve çevre ölçümleri mezure ile alınmıştır. Araştırma sonunda elde edilen veriler SPSS programında değerlendirilmiştir. Ölçümlerin aritmetik ortalaması, standart sapma değerleri, ölçümler sonucu oluşan grup içi, gruplar arası ve yüzdelik gelişim farkları alınmıştır. Araştırmanın bulgularına göre; vücut ağırlığı, BKİ, VYY, bel, kalça, karın, basen, göğüs, göğüs altı, sağ bacak, sol bacak, sağ baldır, sol baldır, sağ kol ve sol kol çevresinde ölçümler sonucunda p<0,001 düzeyinde anlamlı fark vardır. 12 haftalık periyotta deney grubunun vücut ağırlığında %4,80, BKİ %4,87, VYY %5,75, bel %3,82, kalça %3,91, karın %4,36, basen %3,88, göğüs %2,69, göğüs altı %4,01, sağ bacak %5,07, sol bacak %4,76, sağ baldır %5,42, sol baldır %5, sağ kol %4,41 ve sol kol %3,78 oranında gelişim görünmektedir. Zumba grubunun tüm değişkenlerinin ilk ve son ölçümlerinde p<0,001 düzeyinde anlamlı farklılık bulunmuştur. Sonuç olarak; 12 haftalık zumba egzersizlerinin antropometrik özellikler üzerine etkisi olduğu söylenebilir.E

Point-of-care Ultrasound Diagnosis of Tennis Leg

A 38-year-old male presented with left calf pain after a fall while skiing. Physical examination revealed tenderness over the gastrocnemius with a palpable mass and pain with resisted plantar flexion. Point-of care-ultrasound (POCUS) of the gastrocnemius was consistent with a muscle rupture, and we made a diagnosis of tennis leg. The patient was instructed to rest for two weeks, followed by a home rehabilitation program, and he was able to return to his normal activities. Here we present a case of tennis leg quickly and accurately diagnosed with POCUS, negating the need for additional advanced imaging.

Septic Arthritis of the Knee and Necrotizing Fasciitis in a Young Immunocompetent Adult: A Case Report

Septic arthritis is uncommon in immunocompetent young adults. It typically presents in individuals with underlying risk factors. Isolation of Group A Streptococcus (GAS) as the causative agent of septic arthritis is usually associated with autoimmune diseases, chronic skin infections or trauma. Here we report a case of a young lady who is immunocompetent without any prior history of trauma, who presented with an abrupt onset of left knee pain and swelling to the emergency department. An initial diagnosis of acute gout was made and she was treated with non-steroidal anti-inflammatory drug (NSAID). She presented again two days later to a primary care clinic with worsening knee pain and severe left calf pain. A clinical diagnosis of septic arthritis was suspected and the patient was urgently referred to the Orthopaedic team. Synovial fluid from the knee joint aspiration showed growth of GAS. A diagnosis of necrotizing fasciitis was also made as the culture taken from the left calf during incision and drainage (I&D) procedure showed a mixed growth. She eventually underwent surgical debridement twice, together with the administration of several courses of intravenous antibiotics leading to her full recovery after 45 days. This case demonstrates the challenge in making a prompt diagnosis of septic arthritis and probable Type II necrotizing fasciitis in an immunocompetent adult without underlying risk factors. Any delay in diagnosis and treatment would have increased the risk of damage to her knee joint and this may be fatal even in a previously healthy young adult. KEYWORDS: septic arthritis, immunocompetent, Group A streptococcus, necrotizing fasciitis