Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen.

BACKGROUND AND PURPOSE: Following the commercial availability of nusinersen, there have been a number of new referrals of adults with spinal muscular atrophy (SMA) not regularly followed in tertiary-care centers or enrolled in any disease registry. METHODS: We compared demographics and disease characteristics, including assessment of motor and respiratory function, in regularly followed patients and newcomers subdivided according to the SMA type. RESULTS: The cohort included 166 adult patients (mean age: 37.09 years): one type I, 65 type II, 99 type III, and one type IV. Of these 166, there were 67 newcomers. There was no significant difference between newcomers and regularly followed patients in relation to age and disease duration. The Hammersmith Functional Motor Scale Expanded and Revised Upper Limb Module scores were higher in the regularly followed patients compared to newcomers in the whole cohort and in both SMA II and II. A difference was also found on ventilatory status (p = 0.013) and Cobb's angle >50° (p = 0.039) between the two subgroups. No difference was found in scoliosis surgery prevalence (p > 0.05). CONCLUSIONS: Our results showed differences between the two subgroups, even if less marked in the type III patients. In the type II patients, there was a higher proportion of newcomers who were in the severe end of the spectrum. Of the newcomers, only approximately a third initiated treatment, as opposed to the 51% in the regularly followed patients. The identification of patients who were not part of the registries will help to redefine the overall prevalence of SMA and the occurrence of different phenotypes.

CT and MRI of Wernicke's encephalopathy.

The purpose of this pictorial essay is to present the computed tomography (CT) and magnetic resonance imaging (MRI) findings of Wernicke's encephalopathy, a rare, severe, acute neurological syndrome due to thiamine (vitamin B1) deficiency, associated with high morbidity and mortality. The classical clinical triad, which includes ocular signs, altered consciousness and ataxia, can be found in only one-third of patients. Although chronic alcoholic patients are the most commonly affected, Wernicke's encephalopathy may complicate malnutrition conditions in nonalcoholic patients, in whom it is greatly underestimated. CT and above all MRI of the brain play a fundamental role in diagnosing the condition and ruling out other diseases. MRI is the most sensitive technique and is required in all patients with a clinical suspicion of Wernicke's encephalopathy. Medial thalami, mamillary bodies, tegmentum, periaqueductal region, and tectal plate are typical sites of abnormal MRI signal. The dorsal medulla, red nuclei, cranial nerve nuclei, cerebellum, corpus callosum, frontal and parietal cerebral cortex are less common sites of involvement although they are more frequently affected in nonalcoholic patients. Paramagnetic contrast material may help to identify lesions not otherwise visible.

[Locoregional anesthesia in inguinal hernia surgery]. / L'anestesia locoregionale nella chirurgia dell'ernia inguinale.

BACKGROUND: It is a current opinion that local anesthesia (LA) is the primary choice in surgical treatment of the inguinal region, particularly herniorrhaphy. The LA technique personally used for herniorrhaphy is described: it consists of iliohypogastric, ilioinguinal and genito-femoral nerve blocks, and incision line anesthetic infiltration. METHODS: From January 1998 to April 1999, 95 patients underwent inguinal herniorrhaphy employing LA: 77 (81%) in elective surgery, 18 (19%) in emergency; 2 cases with bilateral hernia (97 total LA procedures). RESULTS: Partial success was obtained in only 8 cases (8.4%), which required an association with a hypnotic drug ("blended anesthesia": propofol or midazolam): there were no cases of conversion to general anesthesia. Specific complications of local anesthetic drugs infiltration developed in 8 cases on 97 LA procedures (8.2%), but none required reoperation: 6 inguinal hematomas, 1 female external genitalia hematoma, 1 hematocele. CONCLUSIONS: In conclusion, it is stressed that LA is the technique of choice in herniorrhaphy and surgery of other inguinal pathologies, associating high success rates, rare complications and rapid dismissal: this allows for easy management of the patients and a very important reduction of sanitary costs. The association of LA-hypnotic drugs (blended anesthesia) represents another important resource, since it avoids general anesthesia in many cases and allows a rapid psychophysical recovery.