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Purpose: 25OHD levels in patients with Prader-Willi Syndrome (PWS), the most frequent cause of genetic obesity with a peculiar fat mass distribution, are still debated. Insulin resistance (IR), Body Mass Index-SDS (BMI-SDS), Growth Hormone Therapy (GHT), and puberty onset seem to interact with 25OHD levels. The objectives of the study are: (1) To analyze 25OHD levels in pediatric PWS patients in comparison with a control group (CNT) (2) To evaluate a possible correlation between BMI-SDS, HOMA-IR, puberty, GHT, and 25OHD levels. Methods: This is a retrospective case–control, multicenter study. Data were collected among 8 different Italian Hospitals (outpatient clinics), over a period of four years (2016–2020). We included 192 genetically confirmed PWS and 192 CNT patients, aged 3–18 years, matched 1:1 for age, gender, BMI-SDS, Tanner stage, sun exposure, and month of recruitment. Results: No statistically significant differences in 25OHD levels were observed between the PWS population and the CNT (PWS 24.0 ng/mL vs CNT 22.5 ng/mL, p> 0.05), OR = 0.89 (95% CI 0.58–1.35). We observed a slight, although non-significant, reduction in 25OHD levels comparing NW and OB populations. HOMA-IR, puberty onset, genotype and GHT (previous or ongoing) did not show statistically significant correlation with 25OHD levels. Conclusions: Our findings could be useful for clinicians to optimize the therapeutic management as well as to increase awareness of PWS.

Ensuring food safety is a significant challenge in the processed meat industry. Listeria monocytogenesrepresents a persistent threat due to its ability to grow in adverse conditions. Nowadays, there's a growing interest in natural preservatives to inhibit its proliferation in foods. Accordingly, the aim of the present study was to preliminarily evaluate the in vitroinhibitory activity of various natural antimicrobial agents against Listeria innocua, used as a surrogate for L. monocytogenes. Thyme essential oil (EO) emerged as the most effective candidate for further in vivotesting in pork minced meat with 40% fat and no additional fat, deliberately contaminated with L. innocua.The samples were stored for 20 days under two different temperature conditions, mimicking common procedures used to produce salami with short ripening periods and high fat content, such as the Italian CiauscoloPGI salami, either through spontaneous fermentation or with the use of starter cultures. In vivo, the inhibitory effect of thyme EO was minimal or absent, regardless of fat content. Statistically significant decreases in L. innocuacounts (<2%) were sporadic and observed solely in samples stored under temperature conditions mimicking the typical procedure for spontaneously fermented salami production. However, this effect was not sustained until the end of the experiment. While thyme EO demonstrated potential as an antilisterial agent in vitro, our findings highlight the complex interaction between antimicrobial agents and food matrices, revealing challenges in practical applications. This underscores the importance of further investigation elucidating the effectiveness of antimicrobial agents in real food systems.

Purpose: Early institution of GH therapy in children with Prader–Willi syndrome (PWS) yields beneficial effects on their phenotype and is associated with a persistent improvement of body composition, both in the transition age and in adulthood. Reports from GH stimulation testing in PWS adults, however, suggest that GH deficiency (GHD) is not a universal feature of the syndrome, and the current Consensus Guidelines suggest to perform a reassessment of persistent GHD so as to continue GH therapy after reaching adult height. Few data about GH responsiveness to stimulation testing throughout the transitional period in PWS are available to date.Thus, we investigated the prevalence of GHD in a large cohort of patients with PWS during the transition phase. Patients and methods: One hundred forty-one PWS patients, 72 females and 69 males, aged 15.4–24.9 years, were evaluated by dynamic testing with growth hormone‐releasing hormone (GHRH) plus arginine (GHRH + ARG). To define GHD, both BMI-dependent and BMI-independent diagnostic cut-off limits were considered. Results: According to BMI‐dependent criteria, 10.7% of normal weight (NW), 18.5% of overweight and 22.1% of obese PWS maintained a status of GHD. Similar results were obtained by adopting a cut-off limit specific for the adult age (26.2%), as well as criteria for the transition phase in NW subjects (25%). Conclusion: Our study shows that about 20% of patients with PWS fulfilled the criteria for GHD during the transitional age, suggesting the need of an integrated analysis of GH/IGF-I axis, in the context of the general clinical picture and other endocrine abnormalities, in all subjects after attainment of final stature.

•Spore-forming bacteria could represent health threat in insect-based foods.•The occurrence of Bacillusand clostridia has been reported in insect-based foods.•The application of hurdle technology could help in managing germination of spores.•Challenge tests can be useful to evaluate the behavior of spore-forming bacteria.

Background: Basic science has delivered unprecedented insights into intricate relationships on the smallest scales within well-controlled environments. Addressing pressing societal decision problems requires an understanding of systems on larger scales in real-world situations. Objective: To assess how well the evidence assessors E-Synthesis and EBM+ assess basic science findings to support medical decision making. Methods: We demonstrate the workings of E-Synthesis and EBM+ on a case study: the suspected causal connection between the widely-used drug amoxicillin (AMX) and the putative adverse drug reaction: Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS). Results: We determine an increase in the probability that AMX can cause DRESS within the E-Synthesis approach and using the EBM+ standards assess the basic science findings as supporting the existence of a mechanism linking AMX and DRESS. Conclusions: While progress is made towards developing methodologies which allow the incorporation of basic science research in the decision making process for pressing societal questions, there is still considerable need for further developments. A continued dialogue between basic science researchers and methodologists, philosophers and statisticians seems to offer the best prospects for developing and evaluating continuously evolving methodologies.

Non-Saccharomyceswine yeasts are recognized for their ability to enhance the aroma complexity of wines. New trends in winemaking have highlighted the concept of microbiological terroirthus encouraging the use of indigenous non-Saccharomycesstarter cultures in mixed fermentations with Saccharomyces cerevisiaeto overcome the lack of authenticity and provide the wines with unique regional character and distinct aromatic profiles. In this study, 257 indigenous non-Saccharomycesisolates were obtained for the first time from 11 Maraština vineyards located within the winegrowing region of Dalmatia (Croatia). The isolates were identified at the molecular level and characterized for desirable oenological traits such as growth at different temperatures, high ethanol and SO2tolerance, and for negative features such as high hydrogen sulphide (H2S) and acetic acid production as well as hydroxycinnamic acid decarboxylase (HCDC) activity. Among 27 identified species, those from Aureobasidiumgenera prevailed, followed by Metschnikowia, Hanseniasporaand Lachancea. The representatives from different species showed high SO2(up to 250 mg/L) and ethanol (up to 12%) tolerance, low acetic acid, and medium-low H2S production. The HCDC activity was detected exclusively among Metschnikowia, Aureobasidiumand Kabatiellaspecies. Some regionally distinct characteristics within the isolates from the same species were observed. The encouraging insights into potential new starter cultures emerged after the evaluation of enzymatic activities of selected isolates. Most of them showed high leucine and valine arylamidase activity, whereas Hanseniasporaand Metschnikowiaisolates were additionally characterized by high β-glucosidase and esterase activity, respectively.

Philosophical discussions on causal inference in medicine are stuck in dyadic camps, each defending one kind of evidence or method rather than another as best support for causal hypotheses. Whereas Evidence Based Medicine advocates the use of Randomised Controlled Trials and systematic reviews of RCTs as gold standard, philosophers of science emphasise the importance of mechanisms and their distinctive informational contribution to causal inference and assessment. Some have suggested the adoption of a pluralistic approach to causal inference, and an inductive rather than hypothetico-deductive inferential paradigm. However, these proposals deliver no clear guidelines about how such plurality of evidence sources should jointly justify hypotheses of causal associations. We here develop such guidelines by first giving a philosophical analysis of the underpinnings of Hill’s (1965) viewpoints on causality. We then put forward an evidence-amalgamation framework adopting a Bayesian net approach to model causal inference in pharmacology for the assessment of harms. Our framework accommodates a number of intuitions already expressed in the literature concerning the EBM vs. pluralist debate on causal inference, evidence hierarchies, causal holism, relevance (external validity), and reliability.

This article examines whether people share the Gettier intuition (viz. that someone who has a true justified belief that pmay nonetheless fail to know that p) in 24 sites, located in 23 countries (counting Hong Kong as a distinct country) and across 17 languages. We also consider the possible influence of gender and personality on this intuition with a very large sample size. Finally, we examine whether the Gettier intuition varies across people as a function of their disposition to engage in “reflective” thinking.

The thermotolerant species Campylobacter jejuni, Campylobacter coli, Campylobacter lariand Campylobacter upsaliensisare the causative agents of the human illness called campylobacteriosis. This infection represents a threat for the health of consumers in Europe. It is well known that poultry meat is an important food vehicle of Campylobacterinfection. As emerged from the reported scientific literature published between 2006 and 2016, poultry meat sold at retail level in Europe represents an important source of the pathogen. The contamination level of poultry meat sold at retail can vary depending on pre- and post-harvest factors. Among the pre-harvest measures, strict biosecurity practices must be guaranteed; moreover, among post-harvest control measures scalding, chilling and removal of faecal residues can reduce the contamination level of Campylobacter. An additional issue is represented by increasing proportion of Campylobacterisolates resistant to tetracyclines, ciprofloxacin, and nalidixic acid, thus feeding a serious concern on the effectiveness of antibiotic treatment for human campylobacteriosis in a near future.

Two independent manufacturing batches of naturally fermented CiauscoloPGI salami were studied from the day of production to the end of ripening (20 days). The microbiota compositional shift of samples was studied through culture-dependent and metataxonomic analysis. Analyses of physico-chemical, morpho-textural, and volatilome traits were also carried out. Latilacobacillussakeiwas the dominant species from t5, together with Dellaglioa algidaand Leuconostoc carnosum. Among eumycetes, Cladosporium cladosporioides, Debaryomyces hansenii, Kurtzmaniella zeylanoides, and Malassezia restricta/globosawere the most abundant taxa occurring in all samples. Candidate starter or adjunct cultures of Lat. sakeiwere isolated and characterized for: i) acidification performance; ii) enzymatic activity; iii) production of exopolysaccharides; iv) production of bacteriocins; v) quantification of the hdcAgene of Gram-positive bacteria. The 44 Lat. sakeicultures showed a suitable acid production capacity, together with the capability to cope with the main environmental stresses occurring in fermented sausages. For most of the isolates, strong aminopeptidase activity (leucine arylamidase and the valine arylamidase) was observed. Moreover, the majority of isolates showed the in vitroproduction of sucrose-dependent exopolysaccharides. No Lat. sakeiisolates positive for the hdcAgene were observed. Based on these evidences, a few candidate starter or adjunct cultures, with potential use for product safety and quality improvement, were highlighted, namely Lat. sakeiC5, C7, C11, C31, C45, C48, C53, C55, and C60. In the analyzed CiauscoloPGI samples, 53 volatile substances were fully or tentatively identified; among these, spices-derived components (black pepper and garlic cloves) were constantly detected throughout the whole ripening time.

This study aimed to assess the fermentability of a pistachio-based beverage. The effects of lactic acid fermentation on the odor profile and the stability of the beverage were also assessed. To this end, a procedure for obtaining a pistachio beverage was developed, and the nutritional composition of the beverage was obtained. The beverage was characterized by a high content of fiber (2.9%), fat (4.6%), and protein (2%), and contained high amounts of K and Mg. For the experiment, 43 cultures of the following lactic acid bacteria were used: Companilactibacillus paralimentarius, Companilactibacillus kimchi, Levilactibacillus brevis, Lactiplantibacillu pentosus, Lactiplantibacillus plantarum, Lactiplantibacillus paraplantarum, Latilactobacillus curvatus, Leuconostoc pseudomesenteroides, and Furfurilactobacillus rossiae. The cultures were evaluated for the following technological characteristics: i) growth and acidifying activity, ii) production of exopolysaccharides; iii) presence of histidine decarboxylase (hdcA)gene; iv) antimicrobial activity against Listeria innocua. The cultures were used in model pistachio-based fermentations to assess their ability to grow and acidify. The odor profile of the beverage after 24 h fermentation was assessed using an electronic nose system (E-nose). The pistachio-based beverage resulted an optimal substrate for lactic acid bacteria that reached loads between 8 and 10 log CFU/mL and acidified the beverage to pH values between 4 and 5.5. In the beverage, viable counts of all cultures remained above 8 log CFU/mL after 30 days of storage at 4 °C. The E-nose analysis represented a valid screening method to evaluate the effects of the fermentative activity of microbial starters on the qualitative characteristics of this novel food matrix.

Table olives (Olea europaeaL.) are one of the most important fermented vegetables worldwide, whereas sea fennel (Crithmum maritimumL.) represents an emerging food crop, characterized by interesting nutritional and sensory qualities. Both are characterized by a high concentration of bioactive compounds with health beneficial effects. Thanks to these features, table olives and sea fennel undoubtedly represent two valuable ingredients for the manufacture of innovative vegetable preserves. Given these premises, the present study was aimed at exploring the co-fermentation of green olives and sea fennel to produce laboratory-scale prototypes of innovative high value preserves. To this end, the effects of two recipes, two standard methods for production of table olives, and two fermentation microbiota (resident or inoculated) were assessed. The prototypes were evaluated for their microbial dynamics as well as for key sensory traits by a panel of trained assessors. During the fermentation, all the prototypes showed a progressive pH reduction. Mesophilic lactobacilli, mesophilic lactococci, and yeasts were the main microbial groups at the end of the fermentation, while Enterobacteriaceae decreased during fermentation. Metataxonomic analysis revealed an evolution of the microbiota, with Lactiplantibacillus plantarumdominating in all the prototypes in the late stage of fermentation, irrespective of the recipe, processing method, and starter inoculation. A greater crunchiness and lower fibrousness were perceived in the Greek style prototypes, which were preferred than Spanish style prototypes by trained panelists.

The occurrence of spoilage yeasts in foodstuffs can exert detrimental effects on their quality. Recent scientific studies have demonstrated the effective application of essential oils (EOs) as natural preservatives for controlling spoilage yeasts in foods as: fruit and fruit juices, raw vegetables, cereal-based products, meat-based products, and dairy products. Notwithstanding, the main limitation in using EOs, especially when applied at high concentration, is related to their strong impact on the sensory traits of the treated foods. Hence, to preserve food quality and to assure antifungal activity, the optimal formulation, concentration, and combination of each EO should be defined for each specific food matrix. Research in this direction should equally and carefully select the most suitable EO, depending on the sensory quality parameters of the target food.

This report describes the successful management of a documented necrotizing pneumonia due to Streptococcus pneumoniaein a child with pandemic influenza A (H1N1). The importance of early recognition of bacterial superinfection in patients with influenza and the immunologic interactive mechanisms between viruses and bacteria in determining respiratory diseases are highlighted. The role of modern molecular techniques in improving diagnostic microbiology sensitivity and informing consequent clinical care is emphasized.

The “slash and burn” system is a subsistence agronomical practice widely spread in tropical areas all over the world. This system has been deeply studied, especially for its impacts on agronomical aspects and soil physicochemical properties, while the knowledge on their microbial diversity is scarce. In the present study, for the first time the soil bacterial diversity of three locations from central Mozambique where “slash and burn” has been practiced with different duration of the forest fallow period (≈25, 35, and ≈50 years) has been elucidated through a metataxonomic approach. Bacterial communities were evaluated on genetic horizons of soils under charcoal kiln, crop field, and forest. The aim of this study was to examine the influence of spatial (location and land use), temporal (forest fallow period), and vertical (horizons) variations in selecting bacterial populations in relation to the physico-chemical properties of the soil. Metataxonomic analysis detected 25 different phyla whose distribution varied horizontally and vertically in relation to soil properties: pH, easily oxidizable organic carbon, total nitrogen, and available phosphorous, but also particle-size distribution and mineralogical composition. Such properties were strongly affected and altered by land use management; in particular, charcoal kilns showed better soil properties and the greatest differences in microbial community with respect to crop field and forest, which were quite similar. This might suggest the inability of a forest fallow period shorter than 50 years to improve soil fertility and induce changes in microbial community. The uncommon application of the pedologic approach for microbial evaluation has allowed detecting a clear separation in microbiota composition along the soil profile, with eutrophic bacteria mainly located in the A horizons, while oligotrophic bacteria abounded in the Bo horizons. Considering horizontal and vertical heterogeneity in the same study represent a novelty for bacteria metataxonomic analysis.

Anecdotal reports of restored immunoglobulin production in individuals with common variable immunodeficiency after acquiring HIV infection suggest that perturbation of the immune system occurring during HIV infection may force some underlying functional defects. These findings raise intriguing questions about the pathogenesis of common variable immunodeficiency. No study has investigated the possible influence of HIV infection on the development of selective IgA deficiency, a primary immunologic defect genetically related to common variable immunodeficiency. IgA serum levels were evaluated in a large cohort of children born to HIV-infected mothers from 1985 to 2006. To avoid differences possibly due to different follow-up durations we considered only infected and non-infected children aged over 4 years at last-follow-up. The study included 1,157 non-infected children and 964 infected children, aged ≥ 4 years at last-follow-up and with availability of two or more serum IgA determinations over six months of age. No child displayed immunoglobulin values compatible with diagnosis of common variable immunodeficiency. However, 0/964 infected children vs. 5/1157 non-infected children had selective IgA deficiency (P=0.048). It may be speculated that several immunological alterations, occurring simultaneously in perinatal HIV infection, surpass the functional defect exhibited in some children with selective IgA deficiency. Our data may shed light on the pathogenesis of selective IgA deficiency.

The transfer via the food chain from animals to humans of microbes that are resistant to antimicrobial agents is of increasing concern. To determine the contributions of nonpathogenic microflora to the occurrence and spread of antibiotic resistance (AR) genes in the food chain, 123 lactic acid bacteria were isolated from 29 samples of raw and processed pork and chicken meat products that had previously tested positive for one or more AR genes that encode clinically relevant ARs: tet(M), tet(O), tet(K), erm(A), erm(B), erm(C), aac(6′)-Ie aph(2′′)-Ia, mecA, and blaZ. All of the isolates were initially tested for their AR gene profiles by PCR. The 59 isolates carrying a tet, erm, or blaZgene were taken through molecular identification, analyzed by determination of the MIC, and subjected to genetic fingerprinting. Lactococcus garvieaewas the predominant species (28 isolates), followed by Lactobacillus plantarum(11 isolates) and L. salivarius(6 isolates), whereas Lactococcus lactissubsp. lactis, Lactobacillus johnsonii, L. reuteri, L. crispatus, and L. breviswere identified at lower frequencies. The tet(M) and erm(B) genes were the most frequently detected. Assessment of multiple resistances in 18 tetpositive (tet+) isolates revealed that tet(M) plus erm(B) and tet(K) plus erm(B) were the most frequent AR gene patterns. Partial sequencing of the tet(M) open reading frame of three selected strains showed high sequence similarities (>99%) with tet(M) genes previously found in human pathogens (Listeria monocytogenesand Neisseria meningitidis). Southern hybridization with plasmid profiles revealed these strains contained tet(M)-carrying plasmids.

To evaluate the Toxocaraspp. eggs environmental contamination of the soil of the urban or suburban area Ancona (Italy), 22 public playgrounds were selected and several cores of soil were taken from any selected areas. To study the Toxocaraseroprevalence in the inhabitants of Ancona, blood samples were collected from selected groups of individuals. One hundred and sixty-three blood samples were tested using an enzyme linked immunosorbent assay (ELISA) technique (Lofarma Lab, Milan, Italy) for the detection of IgG-specific antibodies to T.␣canisexcretory–secretory antigens. Toxocaraspp. eggs were found in the soil samples from 14 (63.6%) playgrounds. Toxocaraseroprevalence was detected in blood specimens from six (8.1%) out of 74 symptomatic individuals and from one (1.1%) out of 89 asymptomatic controls. Among symptomatic individuals, the association between Toxocaraseroprevalence and eosinophilia resulted statistically significant (p= 0.029). The high environmental contamination frequency found make necessary to prompt preventive public health measures, such as control of stray animals, treatment of infected pets and hygiene education of the population.

We report the occurrence of neurologic complications in 23 patients who underwent gastric restriction surgery for the treatment of morbid obesity. Complications occurred 3 to 20 months after surgery. All the patients had had protracted vomiting for the first 3 months after the operation. The following syndromes were found chronic or subacute symmetric polyneuropathy (12 patients), acute severe polyneuropathy (1 patient), burning feet syndrome (2 patients), meralgia paresthetica (3 patients), myotonic syndrome (1 patient), posterolateral myelopathy (2 patients), and Wernicke-Korsakoff encephalopathy (2 patients). The patients suffering from burning feet syndrome and those with Wernicke-Korsakoff encephalopathy showed a clear improvement after parenteral thiamine treatment. As to the rest of the patients, the occurrence of the complications seems to be linked to nutritional causes, although no such deficiencies were detected.

Morphologic studies of the oculomotor nerves of a diabetic patient are reported. The patient died from acute severe polyradiculoneuropathy confirmed by clinical and pathological findings. Both oculomotor nerves contained many onion bulb formations. There was no previous history of third nerve palsy. Onion bulb formations in the oculomotor nerve may contribute to our understanding of eventual subclinical pathology of the oculomotor nerve.

The effectiveness of carbocysteine lysine salt monohydrate (SCMC-Lys) and ambroxol hydrochloride (ABX) in the management of respiratory impairment was compared in a single-blind, randomized study of 26 cystic fibrosis patients with similar baseline characteristics. Adults received either SCMC-Lys 900 mg or ABX 33 mg three times a day and children under 14 years of age either SCMC-Lys 270 mg three times a day or ABX 10 mg four times a day. All treatments were given orally for 80 days and at the end of this control period both groups showed significant improvement in chest sound score but improvement in cough score was observed only in those receiving SCMC-Lys. Expectorate viscosity and elasticity decreased significantly in both groups. In SCMC-Lys-treated patients paCO2decreased and paO2and Hb O2saturation increased while only paO2increased significantly in those treated with ABX. An increase in tidal volume, peak expiratory flow values and forced expiratory volume were evident in those receiving SCMC-Lys while significant increases in forced expiratory flow were recorded in those receiving ABX. SCMC-Lys patients' Shwachmann index improved significantly and conversely to the ABX patients. No adverse events were recorded in either treatment group. The study concluded that SCMC-Lys is at least as effective as ABX in improving respiratory function in patients with cystic fibrosis.

Patients with single brain lesions in the anterior or posterior left and right hemispheres and a group of controls were studied in two priming experiments. The first experiment employed associative pairs (DOCTOR-NURSE) and the second employed identical pairs (NURSE-nurse). Short and long prime-target stimulus onset asynchronies (SOAs) (i.e., 250 and 1850 msec) were manipulated within block in both experiments. In the first experiment, patients with left hemisphere injury showed a deficient priming effect while patients with right hemisphere injury and controls showed a normal pattern. In contrast, all groups showed an identity priming effect in the second experiment. These results indicate that while entries in the mental lexicon are available for the groups of patients studied, the spread of activation to related concepts in this lexicon is disrupted in the left hemisphere-damaged group.

AimsTo assess a computerised version of the Stroop test for detection of malingering of cognitive deficit.MethodsSixty subjects were assessed using this test. Twenty had cognitive deficits due to brain damage of miscellaneous aetiologies. Ten were healthy, not acquainted with the test, and were asked to simulate cognitive impairment. Another 10 simulators were psychology students trained in the use of the test. Twenty healthy subjects served as controls. Results were analysed for reaction time, error percentage, and the Stroop effect.ResultsThere was a significant difference in reaction time among groups, showing a direct relation of age among control subjects, and also longer reaction time in patients with brain damage than in controls. Controls and patients with brain damage showed a clear Stroop effect. Simulators had a significantly prolonged reaction time, increased error percentage, and inverted or absent Stroop effect. This alteration of the Stroop effect is never present in organic cognitive deficits and seems to be a characteristic pattern of feigning, independently of knowledge of the test.ConclusionThis technique is recommended as a valuable tool to detect feigned cognitive impairment.

Objective:Studies on the effects of digoxin in patients with right ventricular failure and normal left ventricular function have not been performed. We evaluated the short-term effects of digoxin administration in patients with primary pulmonary hypertension on hemodynamics, neurohormones, and baroreceptor responsiveness.

A 59-year-old man had proximal weakness and wasting that started in early childhood. EMG was “myopathic,” serum CK activity was increased, and muscle biopsy showed accumulations of glycogen. Biochemical studies revealed elevated glycogen concentration and absence of myophosphorylase activity. This unusual presentation of a long-standing, painless, and quite static weakness due to myophosphorylase deficiency represents another example of clinical heterogeneity.

A 51-year-old man had primary amyloidosis, with typical amyloid neuropathy and signs of motor neuron disease, including widespread fasciculation in limb muscles, tongue atrophy and fasciculation, swallowing and chewing difficulty, symmetric hyperreflexia, and bilateral Hoffmann's signs. Fas- ciculations, fibrillations, and positive sharp waves were found in electromyography of all muscles tested. Motor nerve conduction velocities were moderately slow. Lambda chains were detected in serum and CSF. Amyloid was found in sural nerve biopsy. This combination of amyloid neuropathy and features of amyotrophic lateral sclerosis is related to the motor neuron disease of plasma cell dyscrasias.

A 13-year-old boy with a 46,XY,r(7) karyotype presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi. Psychomotor development was normal and no major malformations were present. Comparison with four previously reported patients with ring chromosome 7 shows that the most frequent findings in these subjects were short stature, microcephaly and dermatological abnormalities.