Non-surgical treatment of oblique diaphyseal fractures of the fourth and fifth metacarpals in a professional athlete: A case report

Introduction: Metacarpal fractures are common sports-related injuries, often requiring tailored treatment strategies, especially in athletes. The management of oblique diaphyseal fractures poses unique challenges due to their inherent instability. This case report discusses a non-surgical approach in treating such fractures in a professional athlete. Case presentation: A 26-year-old professional soccer player sustained oblique diaphyseal fractures of the fourth and fifth metacarpals during training. Given the athlete's professional demands and the fracture's nature, a conservative treatment was implemented. This included the application of a modified ulnar gutter brace, allowing for immobilization of the metacarpophalangeal joints (MP) while permitting active mobilization of the interphalangeal joints(IP). Clinical discussion: The non-surgical treatment focused on achieving skeletal stability and maintaining hand function. Despite the complexity of oblique fractures, the conservative approach was successful, enabling the athlete to resume professional activities with minimal risk of fracture displacement. Regular radiographic follow-ups showed no further displacement, highlighting the effective management of such fractures through personalized conservative treatment plans. Conclusions: This case underscores the viability of conservative treatment for specific metacarpal fractures in athletes. Tailoring the treatment to accommodate the athlete's professional needs and understanding the biomechanical characteristics of the fracture are crucial for successful outcomes. The case also suggests that non-surgical management can be a viable option for certain complex metacarpal fractures, especially in high-demand patients

Revolutionizing PIP joint fracture treatment: A case of surgical precision and rapid recovery

Introduction: Proximal interphalangeal joint (PIPj) fractures are a common yet challenging injury, particularly in athletes. This case study explores innovative surgical techniques combined with targeted rehabilitation to optimize recovery and functionality. Case presentation: A 20-year-old male soccer goalkeeper sustained a severe Proximal Interphalangeal Joint fracture-dislocation of the third finger during a game. He was treated using the wide awake local anesthesia no tourniquet (WALANT) technique and a Medartis TriLock plate, originally designed for the proximal phalanx but adapted for use on the middle phalanx. Clinical discussion: Immediate postoperative mobilization was facilitated by the WALANT technique, enhancing pain management and functional recovery. The adaptation of the TriLock plate, typically not used in this context, proved crucial for stabilizing the complex fracture. Follow-up included regular physiotherapy, focusing on mobility exercises and strength training, which were instrumental in the patient's quick return to sport. Conclusions: This case underscores the effectiveness of combining innovative surgical adaptations with early rehabilitation in treating complex hand injuries. Such approaches can lead to successful outcomes, significantly improving recovery times and functional results in athletic populations. This strategy may set a precedent for future treatment protocols in sports-related hand injuries

Structural and connectivity parameters reveal spared connectivity in young patients with non-progressive compared to slow-progressive cerebellar ataxia

INTRODUCTION: Within Pediatric Cerebellar Ataxias (PCAs), patients with non-progressive ataxia (NonP) surprisingly show postural motor behavior comparable to that of healthy controls, differently to slow-progressive ataxia patients (SlowP). This difference may depend on the building of compensatory strategies of the intact areas in NonP brain network. METHODS: Eleven PCAs patients were recruited: five with NonP and six with SlowP. We assessed volumetric and axonal bundles alterations with a multimodal approach to investigate whether eventual spared connectivity between basal ganglia and cerebellum explains the different postural motor behavior of NonP and SlowP patients. RESULTS: Cerebellar lobules were smaller in SlowP patients. NonP patients showed a lower number of streamlines in the cerebello-thalamo-cortical tracts but a generalized higher integrity of white matter tracts connecting the cortex and the basal ganglia with the cerebellum. DISCUSSION: This work reveals that the axonal bundles connecting the cerebellum with basal ganglia and cortex demonstrate a higher integrity in NonP patients. This evidence highlights the importance of the cerebellum-basal ganglia connectivity to explain the different postural motor behavior of NonP and SlowP patients and support the possible compensatory role of basal ganglia in patients with stable cerebellar malformation

Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation

Mitochondrial dynamics and quality control are crucial for neuronal survival and their perturbation is a major cause of neurodegeneration. m-AAA complex is an ATP-dependent metalloprotease located in the inner mitochondrial membrane and involved in protein quality control. Mutations in the m-AAA subunits AFG3L2 and paraplegin are associated with autosomal dominant spinocerebellar ataxia (SCA28) and autosomal recessive hereditary spastic paraplegia (SPG7), respectively. We report a novel m-AAA-associated phenotype characterized by early-onset optic atrophy with spastic ataxia and L-Dopa-responsive parkinsonism. The proband carried a de-novo AFG3L2 heterozygous mutation (p.R468C) along with a heterozygous maternally-inherited intragenic deletion of SPG7. Functional analysis in yeast demonstrated the pathogenic role of AFG3L2 p.R468C mutation shedding light on its pathogenic mechanism. Analysis of patient's fibroblasts showed an abnormal processing pattern of OPA1, a dynamin-related protein essential for mitochondrial fusion and responsible for most cases of hereditary optic atrophy. Consistently, assessment of mitochondrial morphology revealed a severe fragmentation of the mitochondrial network, not observed in SCA28 and SPG7 patients\u2019 cells. This case suggests that coincidental mutations in both components of the mitochondrial m-AAA protease may result in a complex phenotype and reveals a crucial role for OPA1 processing in the pathogenesis of neurodegenerative disease caused by m-AAA defects

IGHV unmutated CLL B cells are more prone to spontaneous apoptosis and subject to environmental prosurvival signals than mutated CLL B cells

Tumor cells in chronic lymphocytic leukemia (CLL) are more prone to apoptosis when cultured ex vivo, because they lack prosurvival signals furnished in vivo via B-cell receptor (BCR)-dependent and -independent pathways. This study compared the susceptibility of unmutated (UM) and mutated (M) CLL B cells to spontaneous apoptosis and prosurvival signals. UM CLL B cells showed a significantly higher rate of spontaneous apoptosis than M CLL B cells. Nuclear factor-kB (NF-kB) was rapidly inactivated, and B-cell leukemia/lymphoma 2 (Bcl-2) expression progressively down-regulated in the UM CLL B cells. CD40-Ligand, interleukin-4 and stromal cells significantly improved their viability and partially recovered Bcl-2, but not NF-kB expression. Peripheral blood mononuclear cells also offered protection of UM CLL B cells, and recovered both NF-kB and Bcl-2 expression. T cells, rather than nurse-like cells, were responsible for protecting UM CLL B cells by means of cell-to-cell contact and soluble factors. Despite their more aggressive features, UM CLL B cells are more susceptible to spontaneous apoptosis and depend from environmental prosurvival signals. This vulnerability of UM CLL B cells can be exploited as a selective target of therapeutic interventions

Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients

Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by mutations in survival motor neuron (SMN) 1 gene, resulting in a truncated SMN protein responsible for degeneration of brain stem and spinal motor neurons. The paralogous SMN2 gene partially compensates full-length SMN protein production, mitigating the phenotype. Antisense oligonucleotide nusinersen (Spinraza®) enhances SMN2 gene expression. SMN is involved in RNA metabolism and biogenesis of microRNA (miRNA), key gene expression modulators, whose dysregulation contributes to neuromuscular diseases. They are stable in body fluids and may reflect distinct pathophysiological states, thus acting as promising biomarkers. Muscle-specific miRNAs (myomiRs) as biomarkers for clinical use in SMA have not been investigated yet. Here, we analyzed the expression of miR-133a, -133b, -206 and -1, in serum of 21 infantile SMA patients at baseline and after 6 months of nusinersen treatment, and correlated molecular data with response to therapy evaluated by the Hammersmith Functional Motor Scale Expanded (HFMSE). Our results demonstrate that myomiR serological levels decrease over disease course upon nusinersen treatment. Notably, miR-133a reduction predicted patients’ response to therapy. Our findings identify myomiRs as potential biomarkers to monitor disease progression and therapeutic response in SMA patients

Gaia-ESO Survey: massive stars in the Carina Nebula. A new census of OB stars

The Gaia-ESO survey sample of massive OB stars in the Carina Nebula consists of 234 stars. The addition of brighter sources from the Galactic O-Star Spectroscopic Survey and additional sources from the literature allows us to create the most complete census of massive OB stars done so far in the region. It contains a total of 316 stars, being 18 of them in the background and four in the foreground. Of the 294 stellar systems in Car OB1, 74 are of O type, 214 are of non-supergiant B type and 6 are of WR or non-O supergiant (II to Ia) spectral class. We identify 20 spectroscopic binary systems with an O-star primary, of which 6 are reported for the first time, and another 18 with a B-star primary, of which 13 are new detections. The average observed double-lined binary fraction of O-type stars in the surveyed region is 0.35, which represents a lower limit. We find a good correlation between the spectroscopic n-qualifier and the projected rotational velocity of the stars. The fraction of candidate runaways among the stars with and without the n-qualifier is 4.4% and 2.4%, respectively, although non resolved double-lined binaries can be contaminating the fast rotators sample.Comment: Accepted for publication in A&A, 62 pages, 8 figure

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.

OBJECTIVE: To characterize clinically and molecularly an early-onset, variably progressive neurodegenerative disorder characterized by a cerebellar syndrome with severe ataxia, gaze palsy, dyskinesia, dystonia, and cognitive decline affecting 11 individuals from 3 consanguineous families. METHODS: We used whole-exome sequencing (WES) (families 1 and 2) and a combined approach based on homozygosity mapping and WES (family 3). We performed in vitro studies to explore the effect of the nontruncating SQSTM1 mutation on protein function and the effect of impaired SQSTM1 function on autophagy. We analyzed the consequences of sqstm1 down-modulation on the structural integrity of the cerebellum in vivo using zebrafish as a model. RESULTS: We identified 3 homozygous inactivating variants, including a splice site substitution (c.301+2T>A) causing aberrant transcript processing and accelerated degradation of a resulting protein lacking exon 2, as well as 2 truncating changes (c.875_876insT and c.934_936delinsTGA). We show that loss of SQSTM1 causes impaired production of ubiquitin-positive protein aggregates in response to misfolded protein stress and decelerated autophagic flux. The consequences of sqstm1 down-modulation on the structural integrity of the cerebellum in zebrafish documented a variable but reproducible phenotype characterized by cerebellum anomalies ranging from depletion of axonal connections to complete atrophy. We provide a detailed clinical characterization of the disorder; the natural history is reported for 2 siblings who have been followed up for >20 years. CONCLUSIONS: This study offers an accurate clinical characterization of this recently recognized neurodegenerative disorder caused by biallelic inactivating mutations in SQSTM1 and links this phenotype to defective selective autophagy

Abundance, movements and biodiversity of flying predatory insects in crop and non-crop agroecosystems

[EN] Predatory insects are key natural enemies that can highly reduce crops pest damage. However, there is a lack of knowledge about the movements of flying predatory insects in agroecosystems throughout the year. In particular, it is still unclear how these predators move from crop to non-crop habitats, which are the preferred habitats to overwinter and to spread during the spring and if these predators leave or stay after chemical treatments. Here, the Neuroptera, a generalist, highly mobile, flying predator order of insects, was selected as model. We studied the effects of farming management and the efficiency of edge shelterbelts, ground cover vegetation, and fruit trees canopy on holding flying predatory insects in Mediterranean traditional agroecosystems. Seasonal movements and winter effects were also assessed. We evaluated monthly nine fruit agroecosystems, six organic, and three pesticides sprayed, of 0.5-1 ha in eastern Spain during 3 years using two complementary methods, yellow sticky traps and aspirator. Results show surprisingly that the insect abundance was highest in pesticide sprayed systems, with 3.40 insects/sample versus 2.32 insects/sample in organic systems. The biodiversity indices were highest in agroecosystems conducted under organic management, with S of 4.68 and D of 2.34. Shelterbelts showed highest biodiversity indices, S of 3.27 and D of 1.93, among insect habitats. Insect species whose adults were active during the winter preferred fruit trees to spend all year round. However, numerous species moved from fruit trees to shelterbelts to overwinter and dispersed into the orchard during the following spring. The ground cover vegetation showed statistically much lower attractiveness for flying predatory insects than other habitats. 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