A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report

Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease caused by mutations in the transient receptor potential melastatin 6 (TRPM6) gene. Affected individuals present in early infancy with seizures caused by the severe hypocalcemia and hypomagnesemia. By presenting this case report, we also aimed to highlight the need for molecular genetic analysis in inbred or familial cases with hypomagnesemia. A Turkish inbred girl, now aged six years, had presented to another hospital at age two months with seizures diagnosed to be due to hypomagnesemia. She was on magnesium replacement therapy when she was admitted to our clinic with complaints of chronic diarrhea at age 3.6 years. During her follow-up in our clinic, she showed an age-appropriate physical and neurological development. In molecular genetic analysis, a novel homozygous frame-shift mutation (c.3447delT>p.F1149fs) was identified in the TRPM6 gene. This mutation leads to a truncation of the TRPM6 protein, thereby complete loss of function. We present the clinical follow-up findings of a pediatric HSH case due to a novel mutation in the TRPM6 gene and highlight the need for molecular genetic analysis in inbred or familial cases with hypomagnesemia.     

Short saphenous vein incompetence and chronic lower extremity venous disease.

OBJECTIVE: We performed this prospective study on patients with signs and symptoms of chronic venous disease to emphasize short saphenous vein (SSV) insufficiency, which is not routinely evaluated with Doppler ultrasonography in every center. METHODS: One hundred seventy-eight patients with signs and symptoms of chronic venous disease were included in the study. We used the CEAP (clinical, etiologic, anatomic, and pathophysiologic data) classification in evaluation of the limbs with isolated and nonisolated SSV incompetence. Patients were classified according to age, occupation, body mass index, and associated chronic illness. A chi(2) test and a t test were used in the statistical analysis. RESULTS: Reflux was observed in 190 (53%) of 356 limbs. In 11 limbs, isolated SSV reflux was observed. These 11 limbs were classified as CEAP grade 2 (3 limbs), CEAP grade 3 (3 limbs), and CEAP grade 4 (5 limbs). Short saphenous vein reflux was observed in 21 (5.9%) of 356 limbs. Mean SSV diameters were 3.89 mm (range, 1-11 mm) on the right and 4.03 mm (1.3-10 mm) on the left. CONCLUSIONS: No statistical significance was found between age, sex, body mass index, occupation, and associated chronic disease and deep or superficial venous system incompetence. A statistically significant difference was found between the SSV diameter of the limbs and associated venous incompetence.     

Preservation of pleural integrity during coronary artery bypass surgery affects respiratory functions and postoperative pain: A prospective study

OBJECTIVE

To evaluate the role of preserved pleural integrity in postoperative pain and respiratory functional status in patients undergoing coronary revascularization.

METHODS

Two hundred forty patients undergoing on-pump coronary artery bypass grafting between March 2004 and February 2005 were included in the present study. The patients were prospectively randomized and divided into either an opened pleura (OP) group (n=120, patients with an OP) or a closed pleura (CP) group (n=120, patients whose pleural integrity was preserved). Preoperative patient characteristics were similar. Postoperative respiratory functions were compared between the groups by chest x-rays, respiratory functional tests and arterial blood gas analyses. Postoperative pain was compared by using a multidimensional pain score. All the tests were examined by the same blinded clinician.

RESULTS

The mean age of the patients was 60.4±8.8 years. Postoperative bleeding and the duration of hospital stay were markedly higher in the OP group than in the CP group. The incidences of atelectasis and pleural effusion were also significantly higher in the OP group (P<0.01). Respiratory functions and postoperative pain scores were better in the CP group (P<0.01 and P=0.008, respectively).

CONCLUSIONS

Preserving pleural integrity has beneficial effects on the respiratory functions and postoperative pain after coronary revascularization. The preservation of pleural integrity results in better respiratory function, decreased hospital stay and cost, and as a consequence, a better surgical outcome.     

Risk factors for short- and long-term survival in patients undergoing re-replacement due to prosthetic valve dysfunction

The purpose of this study was to investigate the effect of preoperative, intraoperative, and postoperative variables on early, mid-, and long-term outcome of re-replacement of prosthetic valves. Between February 1989 and January 2004, 192 patients who were treated for prosthetic valve dysfunction were analyzed retrospectively using a computer-based databank system. Prosthetic valve re-replacements were performed, including 164 cases of second, 10 cases of third, and 2 cases of fourth valve re-replacement. The number of re-replacements amounted to 6.1% (n = 176) of total valvular surgery. There were 90 male patients (46.8%) and the mean age was 61.6 ± 8.3 years. Median follow-up time was 7.8 years. Hospital mortality was 11.7% (n = 14). Low ejection fraction (EF), advanced New York Heart Association (NYHA) functional class, prosthetic valve endocarditis, and pulmonary edema were found to be predictors of early mortality. The 1-, 5-, and 10-year actuarial survival rates were 92% ± 3%, 78% ± 3%, and 45% ± 2%, respectively. Multivariate analysis revealed that NYHA class IV, low EF, prosthetic valve endocarditis, advanced age, left ventricular end-systolic diameter (LVESD) >50 mm, and double valve re-replacement were independent predictors of late mortality. In our study NYHA class IV, low EF, prosthetic valve endocarditis, and LVESD >50 mm were found to be risk factors for both hospital mortality and long-term survival. In addition, pulmonary edema, advanced age, and double valve replacement were also risk factors over the long term. Aggressive treatment of endocarditis and early re-replacement before aggravation of left ventricle function will improve the results.     

Brucella infection with pancytopenia after pediatric liver transplantation

Brucellosis is considered the most widespread zoonosis in the world. It has been reported that the prevalence of seropositivity among the Turkish population varies from 3% to 14%. We present a case of brucellosis after pediatric liver transplantation. A 15‐year‐old boy with the diagnosis of neuro Wilson's disease underwent deceased‐donor liver transplantation. The postoperative immunosuppressive protocol consisted of steroids and tacrolimus. Two months after the operation the patient experienced fever to 40°C. The patient complained of poor appetite, headache, and diarrhea. He had had pancytopenia. Despite administration of appropriate antibiotics, antiviral and antifungal agents, fever persisted for > 1 month. Multiple blood, urine, stool, and sputum cultures were negative. Bone marrow aspirate revealed hypocellularity. Liver biopsy was performed, but rejection was not observed on biopsy specimen. Brucella serology was positive and Brucella agglutination titer was 1:320. Bone marrow culture was positive for Brucella but blood culture was negative. The patient was then treated with oral doxycyline and rifampin for 8 weeks. No previous case report about Brucella infection after liver transplantation has appeared in the literature, to our knowledge; our case is presented as the first. Bone marrow hypoplasia is a rare feature of Brucella infection. Our patient with brucellosis and pancytopenia had had hypocellular bone marrow. The clinical and hematologic findings resolved with treatment of the infection. Brucella infection should be suspected in liver transplanted recipients with fever of unknown origin, especially in a recipient who has lived in an endemic area. Brucella also should be considered as a possible diagnosis in patients with pancytopenia.     

Fatigue and correlation with disease-specific variables, spinal mobility measures, and health-related quality of life in ankylosing spondylitis

Objectives

This study aimed to evaluate fatigue in Turkish patients with ankylosing spondylitis (AS) and its relationship with disease-specific variables, spinal mobility measures, and health-related quality of life (HR-QoL).

Methods

One hundred and ten patients diagnosed as AS according to the Modified New York Criteria and 40 healthy individuals were included in this study. The Multidimensional Assessment of Fatigue (MAF) was used in patient and control groups to assess fatigue. The first item of Bath AS Disease Activity Index (BASDAI) was also used to assess fatigue in the patient group. Evaluation included BASDAI, functional status [BAS Functional Index (BASFI)], and visual analog scale (VAS) of axial and joint pain. Erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were also measured. The generic instrument Short Form 36 (SF 36) was used to assess HR-QoL in the patient group.

Results

Patients with AS had higher total MAF scores and in all MAF subgroup scales than controls. All patient MAF scores were significantly correlated with morning stiffness, number of swollen joints, history of peripheral arthritis, BASDAI, BASFI, BASDAI-fatigue, VAS axial, VAS peripheral, and SF 36 subgroups (p < 0.05). No correlation was observed between all MAF scores and age, body mass index (BMI), disease duration, meteorological measures, and medications in patients.

Conclusions

Patients with AS defined significantly more fatigue when compared with healthy persons. MAF was related to clinical and functional status and HR-QoL of patients with AS. We assume that MAF can be used as a sensitive fatigue measure in patients with AS.     

Quality of life and functional capacity are adversely affected in osteoarthritis patients with neuropathic pain

The aim of this study was to examine the neuropathic pain component of knee osteoarthritis (OA) patients and to investigate the relationship between neuropathic pain, disease stage, functional state, depression, anxiety, and quality of life. This study included 60 patients with knee OA. All demographic data and radiological results were recorded. Visual Analog Scale (VAS), Timed Up and Go Test, Chair Stand Test, Western Ontario and McMasters Universities Osteoarthritis Index (WOMAC), PainDETECT questionnaire, DN4 questionnaire, Short form-36 questionnaire, and Hospital Anxiety Depression Scale were performed for each patient. Neuropathic pain was detected in 66.7% of patients based on the PainDETECT scale and in 46.7% of patients based on DN4 scale. VAS-resting, OA grade, WOMAC scores, and SF-scores showed a significant difference in patients that detected neuropathic pain with PainDETECT (p < 0.05). Based on the DN4 scale, patients with neuropathic pain had significantly higher WOMAC scores and significantly lower SF-36 scores (p < 0.05). The PainDETECT questionnaire scores showed positive correlations with Timed Up-and-go Test, VAS-resting, WOMAC scores, Hospital Anxiety Depression Scale scores, and a negative correlation with all SF-36 scores (p < 0.05). DN4 questionnaire scores showed a negative correlation with SF-36 scores and positive correlation with WOMAC scores (p < 0.05). To conclude, it should be kept in mind that patients with knee OA who describe intense pain may have a neuropathic component involved in the clinical condition. Quality of life and functional capacity are adversely affected in patients with knee OA who have neuropathic pain. This should be taken into account while planning the treatment of these patients.