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Background: Walker-Warburg syndrome (WWS) (OMIM #236670) is an autosomal recessive disorder characterized by congenital muscular dystrophy, hydrocephalus, cobblestone lissencephaly, and retinal dysplasia. The main genes involved are: POMT1, POMT2, POMGNT1, FKTN, LARGE1 , and FKRP . Case report: We present a fetus with WWS showing at ultrasound severe triventricular hydrocephalus. Pregnancy was legally terminated at 21 weeks +2 days of gestation. In vivo and postmortem magnetic resonance revealed corpus callosum agenesis and cerebellar hypoplasia. Cobblestone lissencephaly was observed at post-mortem. Next generation sequencing (NGS) of 193 genes, performed on fetal DNA extracted from amniocytes, detected two heterozygous mutations in the POMT2 gene. The c.1238G > C p.(Arg413Pro) mutation was paternally inherited and is known to be pathogenic. The c.553G > A p.(Gly185Arg) mutation was maternally inherited and has not been previously described. Conclusion: Compound heterozygous mutations in the POMT2 gene caused a severe cerebral fetal phenotype diagnosed prenatally at midgestation allowing therapeutic pregnancy termination.

In our cross-sectional study we investigated the separate influence of three main factors, namely menopausal and estrogen status, and chronological age, on ten neurovegetative climacteric complaints reported in the scale of Kupperman et al. A multivariate statistical analysis was performed by a multivariate statistical approach on 1161 untreated women seen at the Menopause Center of the Ferrara University Hospital. Ninety women (age range, 41-54 years) were premenopausal; 492 women (age range, 38-55 years) were perimenopausal with irregular periods or amenorrhea for less than 12 months; 468 women (age range, 41-69 years) had a spontaneous menopause (age range, 37-66 years); 111 had had hysterectomy with bilateral ovariectomy while still regularly menstruating. Serum estrone was used as the indicator of the patients' estrogen status. A clear positive trend was demonstrated between menopausal status and the prevalence of depression, hot flushes, insomnia and joint pain. However, only the prevalence of hot flushes amongst these four symptoms was significantly related with the climacteric estrogen decline (beta = -0.006, P = 0.001). Moreover, menopausal status appeared to influence the intensity of fatigue, hot flushes, insomnia and paresthesia. Age was found to significantly (P = 0.053) co-vary only with the intensity of the hot flushes, with a positive relation (beta = 0.092, r = 0.104, P = 0.003), whereas estrone values did not significantly co-vary with any symptom. Furthermore, while neurovegetative symptoms are largely present also in the absence of hot flushes, when these latter are present, they exacerbate both the intensity and the prevalence of all the other symptoms.(ABSTRACT TRUNCATED AT 250 WORDS)

A postmenopausal woman, receiving cyclic hormonal therapy, presented to our clinic with acute pelvic pain, absence of withdrawal bleeding and clinical signs of vagal stimulation (nausea and vomiting). Vaginal exploration and ultrasonographic imaging accounted for haematocervix, which was confirmed by surgical blood evacuation.

The normal ranges and mathematical equations of bone mineral content (BMC), normalized to radial width (BMC/W) vs. age at the distal radius, were obtained by single photon absorptiometry (SPA), and compared in two different normal populations, one of postmenopausal females and the other of control males. The female population included 1359 postmenopausal women, aged 35 to 75 years; normal control males were 162, of the same age. The results obtained in the two groups of patients show a statistically significant (p less than 0.001) correlation between age and BMC/W, expressed in a polinomial third-degree regression. The slope of the regression curves is quite different between males and females: the mean decrement, evaluated from regression polinomial fits, results 0.5% per year for normal females, and 0.3% per year for normal males. The maximum decrement (1% per year) is observed at the mean age of 51 years, which is the average age of peri-menopausal women in our province (Ferrara). The authors believe SPA to be a simple and reliable technique in measuring peripheral bone loss rate. SPA may be useful in the diagnosis and treatment of postmenopausal women, but is not recommended in the short-term follow-up of osteoporosis.

Bone lesions are the main sign of neoplastic proliferation of multiple myeloma (MM), a disseminated malignant disease which originates in, invades and replaces normal bone marrow. The most characteristic radiographic pattern is a focal lytic lesion, well-defined or "punched-out", generally with no surrounding bone reaction. The association is confirmed between MM and osteoporosis, as reduced bone density (osteopenia) and pathologic fractures (ribs, spine). This paper is aimed at evaluating the importance of osteopenia in both diagnosis and prognosis of MM. Eighteen patients affected with MM were examined with quantitative computed tomography (QCT) and dual-energy X-ray absorptiometry (DEXA) for bone densitometry in lumbar spine and proximal femur. The patients (12 males and 6 females) were classified according to Durie's clinical criteria and to the radiographic patterns suggested by Merlini. The results indicate the patients with an advanced clinical stage (III) and scintigraphic expansion of bone marrow to have low densitometric values on both QCT and DEXA. There was substantial agreement between the 2 methods, but DEXA had a higher number of false positives. Instrumental diagnostic protocol may be thus planned as follows: 1) conventional radiography; 2) bone marrow scintigraphy; 3) bone densitometry of lumbar spine, with QCT. The patient is then to be followed with conventional and/or digital radiography in symptomatic locations, and with bone scintigraphy.