The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies. Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities. Method We reviewed the neurological manifestations of 39 and the NCS of 33 patients. Results Family history was absent in 16/39 (41%). The onset complaints were weakness in 24, pain in 6, sensory deficit in 5 and paresthesias in 4. Pain was seen in 3 other patients. The following neuropathy patterns were found: multiple mononeuropathy (26), mononeuropathy (7), chronic sensorimotor polyneuropathy (4), chronic sensory polyneuropathy (1) and unilateral brachial plexopathy (1). NCS showed a sensorimotor neuropathy with focal conduction slowing in 31, two had mononeuropathy and another brachial plexopathy. Conclusion HNPP presentation is variable and may include pain. The most frequent pattern is of an asymmetrical sensory and motor neuropathy with focal slowing at specific topographies on NCS.

This methodological study aimed to adapt the Neuropathy -and Foot Ulcer -Specific Quality of Life instrument -NeuroQol to Brazilian Portuguese and to analyze its psychometric properties.Participants were 50 people with peripheral diabetic neuropathy and foot ulcers. The floor and ceiling effects, the convergent and discriminant validity and the reliability were analyzed. The Cronbach's alpha coefficient was used to test the reliability and the Pearson's correlation coefficient to estimate the convergent validity, the Student's t test was used to evaluate the discriminant validity in the comparison of the NeuroQol scores between participants with and without ulcers. Floor and ceiling effects were found in some domains of the NeuroQol. The reliability was satisfactory. The correlations between the domains of the NeuroQol and the SF-36 were negative, significant and of moderate to strong magnitude. The findings show that the Adaptación cultural y validación del Neuropathy -and Foot Ulcer - Specific Quality of Life (NeuroQol) para el idioma portugués de Brasil -Fase 1Estudio metodológico que tuvo como objetivos adaptar el Neuropathy -and Foot Ulcer -Specific Quality of Life -NeuroQol para el idioma portugués de Brasil y analizar sus propiedades psicométricas. Participaron 50 personas con neuropatía diabética periférica y úlceras en los pies. Fueron analizados los efectos floor y ceiling, la validez convergente, la discriminante y la confiabilidad. Fue utilizado el coeficiente alfa de Cronbach para comprobar la confiabilidad y la correlación de Pearson para estimar la validez convergente; el test t-Student fue empleado para evaluar la validez discriminante en la comparación de los puntajes del NeuroQol entre los participantes con y sin úlceras. Se constataron efectos floor y ceiling en algunos dominios del NeuroQol. La confiabilidad fue satisfactoria. Las correlaciones entre los dominios del NeuroQol y SF-36 fueron negativas, significativas, de moderada a fuerte magnitud. Los hallazgos evidencian que la versión brasileña del NeuroQol es confiable y válida y podrá ser utilizado como una herramienta útil para la mejoría de la asistencia de enfermería para las personas con DM.

Background Regarding the leprosy transmission through the upper airways, overcrowded locations such as prisons can become a risk to get sick. Like the leprosy hidden endemic demonstrated in male prison population, being interesting to assess the leprosy scene also among confined women. Methods A prospective descriptive study conducted at Female Penitentiary, Brazil. Leprosy Suspicion Questionnaire (LSQ) were applied to the participants, and submitted to specialized dermatoneurological exam, peripheral nerve ultrasonography, and anti-PGL-I serology. Findings 404 female inmates were evaluated, 14 new cases were diagnosed (LG-leprosy group), a new case detection rate (NCDR) of 3.4%, 13 multibacillary, while another 390 constituted the Non-Leprosy group (NLG). Leprosy cases were followed up during multidrug therapy with clinical improvement. The confinement time median was 31 months in LG, similar to NLG, less than the time of leprosy incubation. Regarding LSQ, the neurological symptoms reached the highest x2 values as Q1–numbness (5.6), Q3–anesthetizes areas in the skin (7.5), Q5–Stinging sensation (5.8), and Q7–pain in the nerves (34.7), while Q4-spots on the skin was 4.94. When more than one question were marked in the LSQ means a 12.8-fold higher to have the disease than a subject who marked only one or none. The high 34% rate of anti-PGL-I seropositivity in the penitentiary, higher levels in LG than NLG. Three additional leprosy cases each were diagnosed on the second (n = 66) and third (n = 14) reevaluations 18 and 36 months after the initial one. Semmes-Weinstein monofilaments demonstrated lower limbs (32.2%) more affected than the upper limbs (25%) with improvement during the follow-up. Interpretation The NCDR in this population showed an hidden endemic of leprosy as well as the efficacy of a search action on the part of a specialized team with the aid of the LSQ and anti-PGL-I serology as an auxiliary tracking tools.

Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects the upper and lower motor neurons. The correct diagnosis at the onset of the disease is sometimes very difficult, due to the symptoms being very similar to those of other neurological syndromes. Objective This study aimed to analyze the initial manifestations, the specialty of the first physician visited due the initial complaint, the misdiagnoses, as well as the unnecessary surgical interventions in a new ALS Brazilian population. Methods The medical records of 173 patients with typical ALS were reviewed. Results The present study demonstrated that other symptoms, besides weakness, were very frequent as initial presentation of ALS, and orthopedics was the medical specialty most sought by patients at the onset of symptoms. Our frequency of misdiagnoses was 69.7%, and in 7.1% of them, an unnecessary surgical intervention was performed. Conclusions Amyotrophic lateral sclerosis presents a very large pool of signs and symptoms; therefore, there is an urgent need of increasing the disease awareness to other specialties due to the high frequency of misdiagnoses observed in clinical practice.