UNASSIGNED: The hepatitis E virus (HEV) can cause acute viral hepatitis with or without neurological manifestations, and occasionally progresses to chronic infection in immunocompromised individuals. The management of chronic HEV infection in cancer patients may be challenging due to the complex immunological constellation. Furthermore, the diagnostic workflow and the impact on quality of life of neurological HEV manifestations in immunocompromised patients have not been sufficiently delineated previously.
UNASSIGNED: A 61-year-old male with systemically treated chronic lymphocytic leukemia (CLL) experienced a slowly progressive atrophy of the spinal cord due to a chronic HEV infection. Despite continuous antiviral treatment with ribavirin, the patient\'s neurological condition continued to deteriorate, particularly following subsequent attempts to treat CLL. Treatment with obinutuzumab resulted in acute bowel and urinary retention and a further deterioration of motor skills, prompting the discontinuation of obinutuzumab. The patient\'s neurological status improved after the administration of intravenous immunoglobulins.
UNASSIGNED: This case study provides a comprehensive long-term follow-up of a cancer patient with chronic HEV infection and associated CNS involvement, which resulted in progressive neurological disability over several years. The challenges faced in diagnosing new neurological symptoms in patients undergoing immunosuppressive cancer treatment underscore the need for an interdisciplinary diagnostic approach that includes HEV testing. We propose a diagnostic pathway for future validation in immunocompromised cohorts presenting with neurological symptoms, emphasizing its potential to enhance clinical outcomes.

This report describes the use of Self Inflating Tissue Expanders (SITEs) to rehabilitate severely atrophic edentulous mandibular ridges, enabling successful bone grafting and implant placement. The treatment resulted in stable and complication-free implants over a seven-year follow-up, demonstrating SITEs\' effectiveness in providing sufficient bone volume and soft tissue coverage for dental implants.

The management of marked horizontal bone atrophy represents a critical challenge for traditional implantology procedures. For this purpose, clinicians have developed several protocols and procedures to allow the most suitable and accurate surgical and prosthetic implant rehabilitation. Despite the development of guided bone regeneration methods and the use of small-diameter implants, the rehabilitation of thin bone areas is a clinical dilemma for the medium- and long-term survival of implant-prosthetic therapies. This clinical case evaluates the use of wedge-shaped implants for the full-arch rehabilitation of an atrophic maxilla with a thin ridge. This treatment choice allowed a minimally invasive rehabilitation, avoiding regenerative bone surgery, while respecting biologic and prosthetic limits. Furthermore, evaluation of the implant stability quotient and marginal bone loss values during the first year of follow-up allowed analysis of the behavior of this rehabilitation in fullarch maxillary cases.

A research participant was monitored over nearly two decades at Mayo Clinic, undergoing annual neurologic assessments, neuropsychological tests, and multimodal imaging. Initially, he was cognitively normal but developed symptoms consistent with Posterior Cortical Atrophy (PCA) during the study. Early tests indicated mild, yet normal-range declines in language and visuospatial skills. FDG-PET scans revealed increased metabolism in posterior brain regions long before symptoms appeared. Advanced analysis using a novel in-house machine-learning tool predicted concurrent Alzheimer\'s disease and dementia with Lewy bodies. Autopsy confirmed a mixed neurodegenerative condition with significant Alzheimer\'s pathology and dense neocortical Lewy bodies. This case underscores the value of longitudinal imaging in predicting complex neurodegenerative diseases, offering vital insights into the early neurocognitive changes associated with PCA and dementia with Lewy bodies.

BACKGROUND: A subgroup of people with multiple sclerosis (pwMS) will develop severe disability. The pathophysiology underlying severe MS is unknown. The comprehensive assessment of severely affected MS (CASA-MS) was a case-controlled study that compared severely disabled in skilled nursing (SD/SN) (EDSS ≥ 7.0) to less-disabled (EDSS 3.0-6.5) community dwelling (CD) progressive pwMS, matched on age-, sex- and disease-duration (DDM).
OBJECTIVE: To identify neuroimaging and molecular biomarker characteristics that distinguish SD/SN from DDM-CD progressive pwMS.
METHODS: This study was carried at SN facility and at a tertiary MS center. The study collected clinical, molecular (serum neurofilament light chain, sNfL and glial acidic fibrillary protein, sGFAP) and MRI quantitative lesion-, brain volume-, and tissue integrity-derived measures. Statistical analyses were controlled for multiple comparisons.
RESULTS: 42 SD/SN and 42 DDM-CD were enrolled. SD/SN pwMS showed significantly lower cortical volume (CV) (p < 0.001, d = 1.375) and thalamic volume (p < 0.001, d = 0.972) compared to DDM-CD pwMS. In a logistic stepwise regression model, the SD/SN pwMS were best differentiated from the DDM-CD pwMS by lower CV (p < 0.001) as the only significant predictor, with the accuracy of 82.3%. No significant differences between the two groups were observed for medulla oblongata volume, a proxy for spinal cord atrophy and white matter lesion burden, while there was a statistical trend for numerically higher sGFAP in SD/SN pwMS.
CONCLUSIONS: The CASA-MS study showed significantly more gray matter atrophy in severe compared to less-severe progressive MS.

Overuse of topical medication is a national issue. Over-the-counter (OTC) medications are dispensed to patients directly without a physician\'s prescription and when used improperly without proper knowledge can lead to their misuse and toxicity.

OBJECTIVE: This study presents an abnormality of the musculus rectus capitis posterior minor (RCPmi) as a new etiological factor for nontraumatic sagittal plane instability in the C0-C1-C2-complex, with a focus on identifying the absence or atrophy of RCPmi on both sides.
METHODS: A 36-year-old male patient presented with recurring neck pain (VAS 8/10) and tingling paresthesia in the entire left hand over a six-month period, without significant neurological deficits. Radiated arm pain was not reported. Imaging examinations revealed sagittal plane instability in the C0-C1-C2-complex, spinal canal stenosis (SCS), and myelopathy at the C1 level. Subsequently, a dorsal C0-1 reposition and fusion with laminectomy were performed.
RESULTS: The congenital absence or atrophy of RCPmi, leading to the lack of cephalad-rearward traction on the C1-tuberculum-posterius, induced a developmental failure of the C1 posterior arch. Consequently, the oblate-shaped C1 posterior arch lost support from the underlying C2 posterior arch and the necessary cephalad-rearward traction throughout the patient\'s 36-year life. This gradual loss of support and traction caused the C1 posterior arch to shift gradually to the anterior side of the C2 posterior arch, resulting in a rotational subluxation centered on the C0/1 joints in the sagittal plane. Ultimately, this led to SCS and myelopathy. Traumatic factors were ruled out from birth to the present, and typical degenerative changes were not found in the upper cervical spine, neck muscles, and ligaments.
CONCLUSIONS: In this case, we not only report the atrophy or absence of RCPmi as a new etiological factor for nontraumatic sagittal plane instability in the C0-C1-C2-complex but also discovered a new function of RCPmi. The cephalad-rearward traction exerted by RCPmi on the C1 posterior arch is essential for the development of a normal C1 anterior-posterior diameter.

BACKGROUND: The ASNS (ASNS, MIM 108370) gene variations are responsible for asparagine synthetase deficiency (ASNSD, MIM 615574), a very rare autosomal recessive disease characterized by cerebral anomalies. These patients have congenital microcephaly, progressive encephalopathy, severe intellectual disability, and intractable seizures.
METHODS: Clinical characteristics of the patient were collected. Exome sequencing was used for the identification of variants. Sanger sequencing was used to confirm the variant in the target region. The structure of the protein was checked using the DynaMut2 web server.
RESULTS: The proband is an 11-year-old Iranian-Azeri girl with primary microcephaly and severe intellectual disability in a family with a consanguineous marriage. Symptoms emerged around the 10-20th days of life, when refractory epileptic gaze and unilateral tonic-clonic seizures initiated without any provoking factor such as fever. A brain MRI revealed no abnormalities except for brain atrophy. The karyotype was normal. Using exome sequencing, we identified a novel homozygous variant of thymine to adenine (NM_001673.5:c.538T>A) in the ASNS gene. Both parents had a heterozygous variant in this location. Subsequently, Sanger sequencing confirmed this variant. We also reviewed the clinical manifestations and MRI findings of the previously reported patients.
CONCLUSIONS: In the present study, a novel homozygous variant was recognized in the ASNS gene in an Iranian-Azeri girl manifesting typical ASNSD symptoms, particularly intellectual disability and microcephaly. This study expands the mutation spectrum of ASNSD and reviews previously reported patients.

Parry-Romberg syndrome (PRS) is a rare neurocutaneous and craniofacial disorder characterized by progressive hemifacial wasting and atrophy that predominantly affects children and young adults, with an estimated prevalence of 1 in 700,000 individuals. Despite its rarity, PRS poses significant challenges for patients, their families, and healthcare providers due to its unpredictable course and potential functional and aesthetic impairments. The main aim is to provide a comprehensive overview of PRS, encompassing its clinical features, pathogenesis, and management techniques. We present a case of PRS in a 9-year-old female with pronounced facial asymmetry, with marked wasting and atrophy involving the entire right side of the face. CT scan revealed right sided hypoplasia of maxilla, mandible, and zygomatic arch with enophthalmos of right eye. MRI showed right temporalis, medial and lateral pterygoid, masseter, risorius, buccinator, zygomaticus major and minor, levator labii superioris, levatorangulioris and orbicularis oris muscles atrophy. The clinical presentation of PRS typically involves progressive facial atrophy, predominantly affecting the subcutaneous tissues, muscles and bones. Patients may experience various symptoms as the condition advances, including facial asymmetry, hemifacial pain, dental and ocular abnormalities and neurological manifestations. The exact etiology of PRS remains unknown, although autoimmune, genetic and vascular factors are likely contributors. Treatment of PRS needs a multidisciplinary approach involving dermatologists, plastic surgeons, neurologists, ophthalmologists, and dental specialists. Treatment options aim to alleviate symptoms, improve function and address cosmetic concerns. Surgical interventions such as autologous fat grafting, facial reconstructive procedures and orthognathic surgery have restored facial symmetry and function. Additionally, nonsurgical modalities, including botulinum toxin injections, prosthetic devices and dental interventions, may offer symptomatic relief and enhance overall quality of life.

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