Corrigendum: Neuroimaging in PRUNE1 syndrome: a mini-review of the literature.

[This corrects the article DOI: 10.3389/fneur.2023.1301147.].

Neuroimaging features of WOREE syndrome: a mini-review of the literature.

The WWOX gene encodes a 414-amino-acid protein composed of two N-terminal WW domains and a C-terminal short-chain dehydrogenase/reductase (SDR) domain. WWOX protein is highly conserved among species and mainly expressed in the cerebellum, cerebral cortex, brain stem, thyroid, hypophysis, and reproductive organs. It plays a crucial role in the biology of the central nervous system, and it is involved in neuronal development, migration, and proliferation. Biallelic pathogenic variants in WWOX have been associated with an early infantile epileptic encephalopathy known as WOREE syndrome. Both missense and null variants have been described in affected patients, leading to a reduction in protein function and stability. The most severe WOREE phenotypes have been related to biallelic null/null variants, associated with the complete loss of function of the protein. All affected patients showed brain anomalies on magnetic resonance imaging (MRI), suggesting the pivotal role of WWOX protein in brain homeostasis and developmental processes. We provided a literature review, exploring both the clinical and radiological spectrum related to WWOX pathogenic variants, described to date. We focused on neuroradiological findings to better delineate the WOREE phenotype with diagnostic and prognostic implications.

Recognizing the new disorder "idiopathic hypocryoglobulinaemia" in patients with previously unidentified clinical conditions.

A considerable number of patients with high clinical suspicion for cryoglobulinaemic vasculitis either show negative results for the detection of cryoglobulins or show only trace amounts which cannot be characterized for composition. We aimed at establishing whether the failure to detect or the detection of trace amounts of cryoglobulin with conventional methods either identifies a peculiar subset of low level cryoglobulinaemia (from now on hypocryoglobulinaemia) or represents a separate entity. Using a modified precipitation technique in hypo-ionic medium, we prospectively identified between 2008 and 2021 237 patients (median age 60.8 years [22-97], 137 females) having < 0.5% cryocrit and clinical suspicion of autoimmune disorder. Of these 237 patients, only 54 (22.7%) had a history of HCV infection. One hundred and sixty-nine out of 237 patients (71%) had an established underlying disease, while 68 patients (28.6%) (median age 62.9 years [29-93], 35 females) did not show either laboratory markers or clinical symptoms consonant with an underlying aetiology. These 68 cases with only trace amounts of cryoglobulins were defined as having a putatively idiopathic hypocryoglobulinaemia. Nineteen of these 68 patients (27.9%) had a history of HCV infection. Twenty-four patients out of 68 (35.3%) were positive for rheumatoid factor (RF), while 25 (36.7%) patients had signs of complement consumption (i.e., C4 < 15 mg/dl and/or C3 < 80 mg/dl ), and 36 (52.9%) had increased inflammatory indexes. Seven patients only had arthralgia and constitutional symptoms while 61 out of 68 (89.7%) presented with at least one of the three cardinal signs of cryoglobulinaemic vasculitis including skin lesions, peripheral nerve involvement, and glomerulonephritis. Seventy-five percent of the subjects had type III hypocryoglobulins. In patients with hypocryoglobulinaemia the histologic features of glomerulonephritis (also examined by electron microscopy) resembled those of mixed cryoglobulinaemia-associated glomerulonephritis. In conclusion, hypocryoglobulins are often polyclonal and are mainly unrelated to HCV infection. Patients who present high clinical suspicion for vasculitis, especially glomerulonephritis and yet test negative for cryoglobulinaemia detected by standard techniques, could require deeper investigation even in the absence of HCV infection, RF activity or signs of complement consumption.

Spectrum of gross motor and cognitive functions in children with cerebral palsy: gender differences.

BACKGROUND: Multiple differences between males and females are reported both in physiological and pathophysiological conditions. AIMS: To test the hypothesis that gender could influence the motor and cognitive development in children with cerebral palsy (CP). METHODS: Prospective, cross-sectional. One hundred seventy one children with CP (98 males and 73 females) were evaluated for motor (Gross Motor Function Measure, Gross Motor Function Classification System) and cognitive (Bayley II, Wechsler Scales) functions. Eighty-four of them were assessed before and other eighty-seven children after 4 years of age. RESULTS: No gender-related differences were observed in children with diplegia or quadriplegia, both for motor and cognitive functions. On the contrary, females with hemiplegia scored significantly better (P < 0.01) in cognitive functions and in the dimension D (standing) of the Gross Motor Function Measure, under the age of 4 years. These differences were not observed after this age. CONCLUSIONS: In this study we point out that gender might influence differently the psycho-motor development of children with hemiplegia and of those with a more severe clinical involvement as diplegia and quadriplegia.

Emotional impact in beta-thalassaemia major children following cognitive-behavioural family therapy and quality of life of caregiving mothers.

BACKGROUND: Cognitive-Behavioural Family Therapy (CBFT) can be an effective psychological approach for children with beta-thalassaemia major, increasing compliance to treatment, lessening the emotional burden of disease, and improving the quality of life of caregivers. DESIGN AND METHODS: Twenty-eight beta-thalassaemic major children that followed CBFT for one year were compared with twenty-eight age-matched healthy children, focusing particularly on behavioural, mood, and temperamental characteristics as well as compliance with chelation, assessed using the Child Behaviour Checklist (CBCL), Children's Depression Inventory (CDI), Multidimensional Anxiety Scale for Children (MASC), and Emotionality, Activity, Sociability and Shyness Scale (EAS). We also monitored the quality of life of caregiving mothers using the World Health Organization Quality Of Life (WHOQOL-BREF) questionnaire. Data were analysed with non-parametric standard descriptive statistics. RESULTS: 90% of beta-Thalassaemic children showed good compliance with chelation therapy; however they had significantly increased somatic complains, physical symptoms and separation panic. Moreover, temperamental assessment revealed high emotionality and poor sociability in treated thalassaemic children and in their mothers. Physical and psychological domains concerning individual's overall perception of quality of life resulted impaired in mothers of beta-thalassaemic children. CONCLUSION: CBFT can be a valid tool to increase the compliance with chelation therapy in beta-thalassaemic children; however, treated children continue to show an important emotional burden; moreover, CBFT therapy seems not to have any positive impact on the quality of life of caregiving mothers, who may therefore need additional psychological support.

Algumas particularidades no adoecimento no homem / Some particularities of the human illness

Apresenta questões que permitem à psicanálise pensar particularidades do adoecimento no Homem. O primeiro capítulo discute as diversidades culturais na abordagem das doenças relacionando-as às diferentes concepções de Homem e corpo. Aborda a medicina moderna e ocidental sob dois aspectos: da construção do campo epistemológico para o filósofo Michel Foucault e a sua relação com o pensamento positivista. Conceitua o que é doença. Expõe as contribuições do antropólogo François Laplantine sobre como as representações das doenças expressam sua etiologia e tratamento. O segundo capítulo apresenta impasses postos por pacientes ao campo da medicina e como essa prática define 'psicossomática'. Retoma textos em que Sigmund Freud descreve a natureza do sintoma neurótico, apresentando em seguida textos de alguns psicanalistas que se dedicam ao estudo da psicossomática. Destaca as visões gerais oferecidas por Jacques Cáin e Patric Valas e particulares, segundo Rosine Debray, Rubens Marcelo Volich, Georg Groddeck e Lazslo Antonio Ávila. Por fim trata do texto Além do princípio do prazer de Freud. O último capítulo expõe pensamentos da psicanálise que apontam para a particularidade do adoeci-mento humano; destaca-se o texto de Jacques Lacan intitulado Duas notas sobre a criança. O trabalho não se pretende conclusivo, mas indicativo de questões que permitam pensar sobre a psicossomática (AU)