Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations

International Journal of Paediatric Dentistry 2010; 20: 305–312 Background. Kallmann syndrome (KS) is a rare genetic disorder characterised by central hypogonadism with a lack of sense of smell and in some cases renal aplasia, deafness, syndactyly, cleft lip/palate, and dental agenesis. To date, five genes for KS have been identified: KAL1, located on the X chromosome, and FGFR1, PROKR2, PROK2 and FGF8, which are involved in autosomally transmitted forms of KS. Aim. The study characterised the dental ageneses of individuals with KS associated with mutations in the FGFR1 gene. Design. Six individuals displaying dental agenesis were included. Clinical and radiological dental evaluations as well as medical anamneses were carried out. Results. Microdontia, screwdriver‐shaped mandibular incisors, thin molar roots, and patterns of dental agenesis in both dentitions were observed. One to nine teeth were missing, most frequently, in descending order, lateral mandibular incisors, second premolars of upper and lower jaws, and lateral maxillary incisors. The pattern of dental agenesis is associated with four new mutations in the FGFR1 gene. Conclusion: Dental agenesis may be a clinical feature of Kallmann syndrome caused by a mutation in the FGFR1 gene. These findings highlight the role that odontologists can play in the early diagnosis and treatment of gonadotropic deficiency.     

Cobalamin deficiency with megaloblastic anaemia in one patient under long-term omeprazole therapy

The first case of cobalamin deficiency with megaloblastic anaemia in a patient under long-term omeprazole therapy is presented. This patient received omeprazole at a daily dose of 40–60 mg for 4 years as treatment for a gastro-oesophagal reflux complicated by peptic oesophagitis. Seric vitamin B12 was dramatically decreased at 80 pmol L^-1. The Schilling test was normal (13%) with crystalline [⁵⁷Co] cobalamin and it was at 0% with [⁵⁷Co] cobalamin-labelled trout meat. All other assimilation tests were normal except an expiratory hydrogen breath test performed with lactulose. The haematological status was restored after intramuscular treatment with cobalamin. In conclusion, prolonged omeprazole therapy can be responsible for a cobalamin deficiency due to protein-bound cobalamin malabsorption.     

Obsessive Compulsive Disorder in a Patient with Twiddler's Syndrome

Twiddler's or twist syndrome is the twisting of pulse generators around themselves. It may result from mechanical manipulation that can induce the malfunction of the device. In this case, twiddler's syndrome resulted from compulsive checking of the device. The implantable cardioverter‐defibrillator (ICD) triggered the development of an obsessive compulsive disorder (OCD). Two invasive procedures were required to replace the ICD. Psychiatric intervention prevented the recurrence of twiddler's syndrome in this patient for more than 2 years. We believe that preimplant psychiatric assessment should be the rule.     

Electrocardiogram-Based Algorithm to Predict the Left Ventricular Lead Position in Recipients of Cardiac Resynchronization Systems

Introduction: Biventricular pacing is associated with various electrocardiographic patterns depending on the position of the left ventricular (LV) lead. We aimed to develop an electrocardiogram-based algorithm to predict the position of the LV lead.
Methods: The algorithm was developed in 100 consecutive recipients of cardiac resynchronization therapy (CRT) systems. QRS axis, morphology, and polarity were analyzed with a view to define the specific electrocardiographic characteristics associated with the various LV lead positions . The algorithm was prospectively validated in 50 consecutive CRT device recipients.
Results: The first analysis of the algorithm was the QRS morphology in V₁. A positive R wave in V₁ suggested LV lateral or posterior wall stimulation. A QS pattern was specific of anterior LV leads. In the presence of an R wave in V₁, V₆ was analyzed to distinguish between an inferior and anterior LV lead. Inferior leads were never associated with a positive V₆. To differentiate between lateral and posterior positions, we analyzed the pattern in V₂. Lateral leads were associated with an R morphology in V₁ and a negative V₂. Posterior leads were associated with an R morphology in V₁ and V₂. The algorithm allowed a reliable distinction between an inferior or anterior and a lateral or posterior lead position in 90% of patients. Inferior, anterior, lateral, and posterior positions were reliably distinguished in 80% of patients.
Conclusion: This algorithm predicted the position of the LV lead with a high sensitivity and predictive value.     

Sudden Cardiac Arrest: ECG Repolarization After Resuscitation

Sudden Cardiac Arrest and ECG Repolarization. Introduction: Early repolarization (ERep) abnormalities on electrocardiogram (ECG) are common immediately following cardiac arrest. We characterized and correlated electrocardiographic repolarization abnormalities immediately after cardiac arrest with acute coronary angiography. Methods and Results: We studied 225 consecutive patients presenting with out‐of‐hospital cardiac arrest. All these patients had successful cardiopulmonary resuscitation and acute coronary angiography. The first ECG recorded after successful resuscitation was analyzed by two independent cardiologists. Patients were categorized according to their repolarization pattern.

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Decreased levels of T-cells and cells with suppressor T-cell phenotype as defined by specific monoclonal antibodies in patients with atopic dermatitis

peripheral blood cells from forty patients with atopic dermatitis and elevated serum IgE levels were studied by indirect immunofluorescence using monoclonal antibodies OKT3, OKT4, OKT8 to, respectively, human T cells, helper-inducer and suppressor-cytotoxic T cell subsets. Decreased T cells with the suppressor-cytotoxic phenotype, with an abnormal balance between helper and suppressor cell subsets, and decreased peripheral blood T cells counts were found as compared to controls. Results were similar in the three age-matches group (4 months–2 years, 2–15 years, 15–50 years) studied. No correlation could be established between serum IgE levels and the elevated helper/suppressor cell ratios.     

NUTRITIONAL STATUS IN CHRONICALLY ALCOHOLIC MEN FROM THE MIDDLE SOCIOECONOMIC CLASS AND ITS RELATION TO ETHANOL INTAKE

Two-hundred and fifty chronically alcoholic men (mean age, 41± 11 years) entering an alcoholism treatment programwere studied. Detailed clinical history, nutritional assessmentand measurement of muscle strength by electronic myometer wereperformed in each case. In addition, hepatic ultrasonographyand liver biopsy, echocardiography and radionuclide cardiacscanning, and electrophysiological testing of peripheral nerveswere performed when there was clinical evidence of liver disease,cardiomyopathy or neuropathy, respectively. Alcoholic cirrhosiswas diagnosed in 20 cases, skeletal myopathy in 117, dilatedcardiomyopathy in 20 and peripheral neuropathy in 41 cases.No patients with chronic myopathy or cardiomyopathy showed eitherclinical or laboratory evidence of malnutrition. Patients withcirrhosis showed a significantly lower lean body mass than controls(P = 0.03) and significantly lower nutritional protein levelsthan those alcoholics without cirrhosis. Alcoholics with peripheralneuropathy had significantly lower anthropometric parametersand nutrition protein levels than their counter parts (P <0.001). However, in the multivariate analysis, the only independentfactor for developing these complications of alcoholism wasthe total lifetime dose of ethanol (P < 0.001). We concludethat alcohol-related diseases are common in asymptomatic alcoholicmen and these diseases appear to be due to an accumulative toxiceffect of ethanol. Age and nutritional status do not seem toplay a part in the development of such diseases