Adult-onset neuronal intranuclear inclusion disease mimicking Fragile X-associated tremor-ataxia syndrome in ethnic Chinese patients.

Two ethnic Chinese men with clinico-radiologic features of Fragile X-associated tremor-ataxia syndrome (FXTAS) were found on genetic testing to have neuronal intranuclear inclusion disease (NIID), highlighting that NIID should be considered in the differential diagnosis of FXTAS. NIID may also be much more common than FXTAS in certain Asian populations.

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.

Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired by the striking similarities in the clinical and neuroimaging findings between neuronal intranuclear inclusion disease (NIID) and fragile X tremor/ataxia syndrome caused by noncoding CGG repeat expansions in FMR1, we directly searched for repeat expansion mutations and identified noncoding CGG repeat expansions in NBPF19 (NOTCH2NLC) as the causative mutations for NIID. Further prompted by the similarities in the clinical and neuroimaging findings with NIID, we identified similar noncoding CGG repeat expansions in two other diseases: oculopharyngeal myopathy with leukoencephalopathy and oculopharyngodistal myopathy, in LOC642361/NUTM2B-AS1 and LRP12, respectively. These findings expand our knowledge of the clinical spectra of diseases caused by expansions of the same repeat motif, and further highlight how directly searching for expanded repeats can help identify mutations underlying diseases.

An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy.

Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with marked variety in its clinical manifestations. While characteristic neuroimaging and skin biopsy findings are important clues to the diagnosis, autopsy studies are still important for confirming the exact disease features. We herein report the case of a patient who received an antemortem diagnosis of familial NIID with dementia-dominant phenotype that was later confirmed by an autopsy. Our report is the first to document a case of autopsy-confirmed NIID involving both cognitive impairment and sensorimotor neuropathy.

Deep vein thrombosis of the lower limb secondary to lumbar discal hernia compression: a rarity? Review of the literature.

This case report is about a 70-years-old female patient, suffering from discal hernia, with compression of the iliac vein, that led to the formation of deep vein thrombosis of the lower limbs. The angio-CT scan revealed the starting point of the L4- L5 compression where a voluminous discal hernia caused deep vein thrombosis, with the involvement the femoro-popliteal venous axis. Blood samples and PET-CT scans excluded other possible etiologic factors. This case demonstrates how a voluminous discal hernia can cause venous thrombosis.

[Spontaneous rupture of duodenum: case report and review]. / Rottura spontanea del duodeno: presentazione di un caso clinico e revisione della letteratura.

Although rare, injuries of the duodenum increased in frequency during the past ten years. Careful attention must be paid to them, especially in blunt trauma of the abdomen and lower thoracic regions. Often they occur along with lesions of other related structures in polytraumatized patients. X-rays are the most important mean used in diagnosis. Early diagnosis and surgical treatment are conditio sine qua non for successful results. Complete intraoperative inspection of the duodenum, careful suture of the perforation and a correct placement of drainage are essential for the prevention of postoperative complications. If the duodenal wall had lost its vitality, a gastrojejunal or duodenojejunal anastomosis or gastrostomy are performed; the duodenum is decompressed and drainage of the peritoneal cavity is established. In cases of associated injury of the pancreas or choledochus, the drainage of the extrahepatic bile duct is recommended. The Authors report a case of spontaneous rupture of duodenum in which all of the above mentioned procedures were used; they stress that only suspicion of a duodenum's rupture indicates an immediate laparotomy.

[Monitoring of consciousness with BIS during induction of anesthesia. Which muscle relaxant?]. / Monitoraggio con BIS dello stato di coscienza durante induzione dell'anestesia generale. Quale miorilassante?

The BIS-index data show that an opiate as Fentanyl is advisable with associations Cisatracurium/Propofol or Vecuronium/Propofol. It is possible to use in these cases a drip infusion to avoid the risk of awareness during intubation.

[Muscle metastasis of bronchopulmonary carcinoma]. / Le metastasi muscolari da carcinoma broncopolmonare.

Typical sites of bronchogenic carcinoma metastases are liver, brain, bones or adrenal glands. Rarely and in advanced dissemination phase it could involve the skeletal muscle. Two cases of metastases in the skeletal muscle from bronchogenic carcinoma, one of which revealed this neoplasia, are reported.

Prognostic significance of postoperative empyema in lung cancer.

Four hundred sixty patients who had undergone resection for lung cancer, with a minimum follow-up of 10 years, were analyzed retrospectively. Thirty-eight cases developed postoperative empyema. A comparative evaluation of the long-term survival rate was made of two groups: one in which the patients had developed empyema and one in which the patients had developed no empyema complications. The survival rate was estimated by the Kaplan Meyer Product Limit Method. The prognostic significance of empyema and other factors was analyzed by the Log Rank Test, the chi 2 test in homogeneous series of patients and the Cox Hazard Model. Overall, the ten-year survival rate was 23.7% in the empyema group and 15.9% in the control group. After stratification by post-surgical stage, lymphocytic infiltration of primary-tumor (LI), and histological type, no significant differences in survival between the two groups were demonstrated by the Log Rank Test. The same results were found when the survival distribution of the empyema cases was compared with two control groups of patients without empyema, individually paired to the empyema group for Immune Response (LI), post-surgical stage, and histological type. In the end, after multivariate analysis empyema was not shown to be a factor of prognostic significance.