Triquetral-lunate arthritis secondary to synostosis

Until recently the problem of painful, symptomatic arthritis of the wrist secondary to congenitally incomplete separation of carpal bones has been infrequently recognized. Five patients with either excessive stress loading or trauma had eight symptomatic wrists with congenitally incomplete separation of the triquetral-lunate joint. Three of these patients had bilateral symptoms. Six of the wrists had been treated by a limited wrist arthrodesis of the triquetral-lunate joint resulting in asymptomatic wrists and improved range of motion. It appears that patients with this congenital condition poorly tolerate stress loading or trauma secondary to deficient intra-articular cartilage formation resulting in a clinical and anatomic state similar to degenerative arthritis. We suggest a limited wrist arthrodesis as definitive treatment for symptomatic congenitally incomplete separation of the triquetral-lunate joint, with possible application in incomplete separation of the other intercarpal joints.     

T cell receptor γδ repertoire is skewed in cerebrospinal fluid of multiple sclerosis patients: molecular and functional analyses of antigen-reactive γδ clones

To study the relevance of γδ T cells in multiple sclerosis (MS) we analyzed the T cell receptor (TCR) γδ repertoire and the antigen reactivity of γδ clones isolated from cerebrospinal fluid (CSF). In T cell cultures derived from CSF we found an increased percentage of Vδ1⁺ cells as compared to peripheral blood of the same donors. Phenotypic analysis of cells from MS CSF with Vγ- and Vγ-specific monoclonal antibodies (mAb) showed that the Vγ1 chain is most frequently associated with γ chains belonging to the VγI family. Sequence analysis of TCR genes revealed heterogeneity of junctional regions in both δ and γ genes indicating polyclonal expansion. γδ clones were established and some recognized glioblastoma, astrocytoma or monocytic cell lines. Stimulation with these targets induced serine esterase release and lymphokine expression characteristic of the T_H0-like phenotype. Remarkably, these tumor-reactive γδ cells were not detected in the peripheral blood using PCR oligotyping, but were found in other CSF lines independently established from the same MS patient. Altogether, these results demonstrate that in the CSF there is a skewed TCR γδ repertoire and suggest that γδ cells reacting against brain-derived antigens might have been locally expanded.     

Comorbidity and rehabilitation

Screening patients admitted to a rehabilitation center has become important. Actually, co-existing diseases are not very often evaluated and their importance is underestimated. At our department 166 consecutive patients were enrolled. The Cumulative Illness Rating Scale (CIRS) appeared to be the most suitable for these cases. In this series, stroke patients presented with higher severity and higher comorbidity than the hip fracture patients. The hip fracture cases were older but the stroke cases had higher severity and comorbidity. Comorbidity, also, showed a significant negative correlation with FIM in the stroke patients. These data show that severe comorbid conditions influence the functional autonomy. Severity and comorbidity were correlated both in the hip fracture and stroke cases. A review of geriatric literature demonstrates lower values in patients in rehabilitation. The difference is due to our accurate selection of patients at admission, where general health conditions are considered. In conclusion, the CIRS should be used as a method for selecting patients at admission and as a prognostic index for improvement at discharge. The CIRS, however, has some inconveniences and amelioration is necessary, such as the inclusion of a double testing (admission-discharge), psychiatric disturbances and a new item for skin alone. The Severity Index was higher in women, who were older than men, whereas, comorbidity was the same. In the patients suffering from hip fracture, the age was higher in women, but dependence, severity and comorbidity did not statistically differ between the groups.     

Hypothalamitis: a diagnostic and therapeutic challenge

To report an unusual case of biopsy-proven autoimmune hypophysitis with predominant hypothalamic involvement associated with empty sella, panhypopituitarism, visual disturbances and antipituitary antibodies positivity. We present the history, physical findings, hormonal assay results, imaging, surgical findings and pathology at presentation, together with a 2-year follow-up. A literature review on the hypothalamic involvement of autoimmune hypophysitis with empty sella was performed. A 48-year-old woman presented with polyuria, polydipsia, asthenia, diarrhea and vomiting. The magnetic resonance imaging (MRI) revealed a clear suprasellar (hypothalamic) mass, while the pituitary gland appeared atrophic. Hormonal testing showed panhypopituitarism and hyperprolactinemia; visual field examination was normal. Pituitary serum antibodies were positive. Two months later an MRI documented a mild increase of the lesion. The patient underwent biopsy of the lesion via a transsphenoidal approach. Histological diagnosis was lymphocytic “hypothalamitis”. Despite 6 months of corticosteroid therapy, the patient developed bitemporal hemianopia and blurred vision, without radiological evidence of chiasm compression, suggesting autoimmune optic neuritis with uveitis. Immunosuppressive treatment with azathioprine was then instituted. Two months later, an MRI documented a striking reduction of the hypothalamic lesion and visual field examination showed a significant improvement. The lesion is stable at the 2-year follow-up. For the first time we demonstrated that “hypothalamitis” might be the possible evolution of an autoimmune hypophysitis, resulting in pituitary atrophy, secondary empty sella and panhypopituitarism. Although steroid treatment is advisable as a first line therapy, immunosuppressive therapy with azathioprine might be necessary to achieve disease control.     

Primary multicentric anaplastic pleomorphic xanthoastrocytoma with atypical features

Pleomorphic xanthoastrocytoma (PXA) is a rare tumor with good prognosis after surgery. Few cases of anaplastic PXA (either de novo or secondary to transformation of a recurrent low grade PXA) have been reported. Moreover, primary anaplastic PXA with dissemination at diagnosis has been described only in two patients, to our knowledge. We report the first case of primary multicentric anaplastic PXA and discuss its atypical features and the pertinent literature.     

Myeloid sarcoma with megakaryoblastic differentiation mimicking a sellar tumor

Myeloid sarcoma (MS) is a localized extra‐medullary tumor mass of immature myeloid cells, arising de novo or related to acute myeloid leukemia, of which it can be a forerunner, a coinciding or late event. Less commonly, MS represents an acute blastic transformation of myelodysplastic syndromes or myeloproliferative neoplasms. This rare condition commonly consists of a proliferation of more or less immature cells with a myeloid immunophenotype, very exceptional cases showing a megakaryoblastic or erythroid differentiation. The most common localization of MS is the skin, lymph node, soft tissues and bones, but CNS involvement is exceedingly rare, with no cases reported in the sellar region. We report a 54‐year‐old man, affected by myeloproliferative neoplasm, JAK2 V617F‐positive of 13 years duration, who acutely presented with a third cranial nerve palsy; neuroradiology documented a space‐occupying lesion at the level of the sellar, upper clival and right parasellar regions, that was sub‐totally removed with a trans‐sphenoidal approach. The histological examination documented a proliferation of large, blastic cells, frequently multinucleated; a diagnosis of MS with megakaryoblastic differentiation, arising in a background of chronic idiopathic myelofibrosis, was suggested by immunohistochemistry, owing to CD42b, CD45, CD61 and LAT (linker for activation of T cells) positivity. In addition, homozygous JAK2 V617F mutation was detected from the myeloid sarcoma specimen. A few weeks after surgery, an acute blastic leukemic transformation occurred and, despite chemotherapy, the patient died 2 months after surgery. To the best of our knowledge, this is the first MS case with megakaryoblastic differentiation arising within the CNS.     

Virologic non‐suppression and early loss to follow up among pregnant and non‐pregnant adolescents aged 15–19 years initiating antiretroviral therapy in South Africa: a retrospective cohort study

IntroductionOlder adolescents aged 15–19 years continue to have high rates of loss to follow up (LTFU), and high rates of virologic non‐suppression (VNS) compared to younger adolescents and adults. Adolescent females are at risk of pregnancy, which puts those living with HIV at a dual vulnerability. Our study assessed the factors associated with VNS and LTFU in older adolescents (including pregnant females) who initiated antiretroviral therapy (ART) in South Africa.MethodsWe included adolescents aged 15–19 years initiating ART between 2004 and 2019, with ≥ one viral load (VL) measurement between 4 and 24.5 months, and ≥ 6 months follow‐up, from six South African cohorts of the International epidemiology Databases to Evaluate AIDS‐Southern Africa (IeDEA‐SA). We defined VNS as VL ≥400 copies/ml and LTFU as not being in care for ≥180 days from ART start and not known as transferred out of the clinic or dead in the first 24 months on ART. We examined factors associated with VNS and LTFU using Fine&Gray competing risk models.ResultsWe included a total of 2733 adolescents, 415 (15.2%) males, median (IQR) age at ART start of 18.6 (17.3, 19.4) years. Among females, 585/2318 (25.2%) were pregnant. Over the 24‐month follow‐up, 424 (15.5%) of all adolescents experienced VNS: range (11.1% pregnant females and 20.5% males). Over half of all adolescents were LTFU before any other event could occur. The hazard of VNS reduced with increasing age and CD4 count above 200 cells/μl at ART initiation among all adolescents having adjusted for all measured patient characteristics [adjusted sub‐distribution hazard ratio (aSHR) 19 vs. 15 years: 0.50 (95% CI: 0.36, 0.68), aSHR: >500 vs. ≤200 cells/μl: 0.22 (95% CI: 0.16, 0.31)]. The effect of CD4 count persisted in pregnant females. Increasing age and CD4 count >200 cells/μl were risk factors for LTFU among all adolescents.ConclusionsOlder adolescents had a high risk of LTFU shortly after ART start and a low risk of VNS, especially those initiating treatment during pregnancy. Interventions addressing adherence and retention should be incorporated into adolescent‐friendly services to prevent VNS and LTFU and endeavour to trace lost adolescents as soon as they are identified.     

Surgical treatment of Basedow's disease: our experience with 424 operations

From February 2002 to December 2005, 424 operations for thyroid disease were performed in our institute. Twenty-two patients were suffering from Basedow's disease, 14 female and 8 male, mean age 36 years (range: 23 to 53 years). In each patient the diagnosis of Basedow's disease was made according to common clinical and laboratory criteria, by evaluation of the thyroid hormones, TSH and TRAB. Before operation all patients were rendered euthyroid with antithyroid drug treatment. Fourteen total thyroidectomies (64%) and 8 near-total thyroidectomies (36%) were performed. Postoperative thyroid function status was evaluated before, 3-4 weeks after the operation and then 3, 6,12 and 24 months postoperatively. The patients were classified as euthyroid (FT3-FT4 and TSH normal), hypothyroid (FT3 and/or FT4 reduced and TSH increased), or hyperthyroid (FT3-FT4 increased). In expert hands, surgical treatment appears to be capable of curing the hyperthyroidism of Basedow's disease effectively, with a very low and largely acceptable risk of complications. Among the different types of surgery, total thyroidectomy and near-total thyroidectomy are equally appropriate to ensure there is no risk of recurrence of hyperthyroidism.