ABSTRACT
Diagnosing familial dilated cardiomyopathy requires careful family history taking and clinical evaluation in first degree relatives. Based on the results of these findings the diagnosis may be established in the proband. However, due to the age-dependent expression of the disease, doubt may persist regarding the exact status of other family members, especially in young individuals. Here we present a family with DCM in whom we identified an underlying cardiac troponin T (TNNT2) mutation. Genetic testing was essential for the detection of asymptomatic carriers as well as for exclusion of the disease in other family members.
Subject(s)
Cardiomyopathy, Dilated/genetics , Mutation , Troponin T/genetics , Female , Genetic Testing , Humans , Pedigree , Young AdultSubject(s)
Eye Injuries/diagnosis , Retinal Perforations/diagnosis , Female , Humans , Middle Aged , Remission, SpontaneousABSTRACT
BACKGROUND: Predisposition is responsible for approximately 50% of age-related cataracts. Investigation of inherited forms of cataract provides the opportunity to identify the genes that may play a role in age-related cataract as well. PATIENTS AND METHODS: We describe the phenotype of a Swiss family with juvenile cataract, associated with microcornea and renal glucosuria. 11 of 17 family members in three generations underwent ophthalmic assessment and urine analysis. Medical records or questionnaires were evaluated in the remaining six cases. RESULTS: Eleven family members had progressive juvenile cataract. Eight affected members available for clinical examination had bilateral microcornea, not associated with microphthalmos. Furthermore, renal glucosuria was demonstrated in six of these persons. The mode of inheritance is autosomal-dominant. CONCLUSIONS: We have defined a new syndrome, consisting of the association of juvenile cataract, microcornea and renal glucosuria. The pattern of inheritance is autosomal-dominant. Genotyping is ongoing.
Subject(s)
Cataract/diagnosis , Cataract/genetics , Cornea/abnormalities , Glycosuria, Renal/diagnosis , Glycosuria, Renal/genetics , Adolescent , Adult , Cornea/pathology , Family , Female , Heterozygote , Humans , Male , Middle Aged , Pedigree , SyndromeABSTRACT
We present two term neonates in which intravenous indomethacin usage was associated with successful closure of a persistently patent arterial duct. Both children had congenital heart disease with high pulmonary blood flow following surgical placement of contralateral systemic-pulmonary artery shunts.
Subject(s)
Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Ductus Arteriosus, Patent/drug therapy , Indomethacin/therapeutic use , Cyclooxygenase Inhibitors/therapeutic use , Heart Defects, Congenital/drug therapy , Humans , Infant, Newborn , Male , Ventricular Outflow Obstruction/drug therapyABSTRACT
We present a 16 year-old girl who suffered since one year of a painless slow growing mass on the left medial orbital rim causing globe displacement. CT-scan and MRI of the orbit with T1 and T2 weighted images showed the presence of a large mucocoele in the frontal sinus. This occurred secondary to the obstruction of the sinonasal tract by a bony tumour. Histopathology showed a lesion consisting of fibrous tissue and ossicles or psammomatoid bodies. The diagnosis of a psammomatoid ossifying fibroma (POF) was made.
Subject(s)
Ethmoid Bone/diagnostic imaging , Ethmoid Bone/pathology , Fibroma, Ossifying/diagnosis , Skull Neoplasms/diagnosis , Adolescent , Female , Fibroma, Ossifying/pathology , Humans , Magnetic Resonance Imaging , Skull Neoplasms/pathology , Tomography, X-Ray ComputedABSTRACT
1. The effect of incubation with the nitric oxide (NO) donor nitroglycerin and of long-term electrical stimulation on relaxations induced by non-adrenergic, non-cholinergic nerve stimulation, exogenous NO, vasoactive intestinal polypeptide (VIP) and lemakalim was investigated in the pig gastric fundus. 2. In physiological salt solution containing 10(-6) M atropine and 4 x 10(-6) M guanethidine, electrical field stimulation (40 V, 0.1 ms, 0.5-8 Hz) for periods of 10 s at 5 min intervals (train stimulation) and administration of NO (2 x 10(-6)-10(-4) M) at 5 min intervals (NO boli) induced frequency- and concentration-dependent transient relaxations, respectively. Continuous electrical field stimulation with stepwise increase of the frequency (0.5-8 Hz, cumulative stimulation) induced frequency-dependent sustained relaxations. VIP (10(-7) M), lemakalim (10(-5) M) and an infusion of NO induced a sustained relaxation. 3. Pretreatment for 30 min with 5 x 10(-4) M nitroglycerin reduced the relaxations induced by train and cumulative stimulation, but also the relaxant responses to NO, both when given in boli or as an infusion. The relaxations to VIP and lemakalim were not influenced by pretreatment with nitroglycerin. 4. Long-term electrical stimulation at 4 Hz for 40 min induced a sustained relaxation of the tissues. Administration of 3 x 10(-4) M N(G)-nitro-L-arginine methyl ester after 10, 20 or 30 min reversed the relaxation to a similar extent (approximately 70%). Previous long-term electrical stimulation at 4 Hz for 30 min did not affect the responses to stimulation, NO and VIP. 5. These results illustrate that nitroglycerin can induce a postjunctional tolerance to nitrergic stimuli in the pig gastric fundus but evidence for a prejunctional inhibition of neuronal NO synthase by NO was not obtained.
