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Telehealth refers to the use of telecommunication devices and other forms of technology to provide services outside of the traditional in-person health care delivery system. Growth in the use of telehealth creates new challenges and opportunities for implementation in clinical practice. The American Academy of Physical Medicine and Rehabilitation (AAPM&R) assembled an expert group to develop a white paper to examine telehealth innovation in Physical Medicine and Rehabilitation (PM&R). The resultant white paper summarizes how telehealth is best used in the field of PM&R while highlighting current knowledge deficits and technological limitations. The report identifies new and transformative opportunities for PM&R to advance translational research related to telehealth and enhance patient care., (© 2023 American Academy of Physical Medicine and Rehabilitation.)

Among all the inorganic nanomaterials used in commercial products, industry, and medicine, the amorphous silica nanoparticles (SiO 2 NPs) appeared to be often tolerated in living organisms. However, despite several toxicity studies, some concerns about the exposure to high doses of SiO 2 NPs with different sizes were raised. Then, we used the microemulsion method to obtain stable SiO 2 NPs having different sizes (110 nm, 50 nm, and 25 nm). In addition, a new one-pot green synthetic route using leaves extract of Laurus nobilis was performed, obtaining monodispersed ultrasmall SiO 2 NPs without the use of dangerous chemicals. The NPs achieved by microemulsion were further functionalized with amino groups making the NPs surface positively charged. Then, high doses of SiO 2 NPs (1 mg/mL and 3 mg/mL) achieved from the two routes, having different sizes and surface charges, were used to assess their impact on human alveolar cells (A549), being the best cell model mimicking the inhalation route. Cell viability and caspase-3 induction were analyzed as well as the cellular uptake, obtaining that the smallest (25 nm) and positive-charged NPs were more able to induce cytotoxicity, reaching values of about 60% of cell death. Surprisingly, cells incubated with green SiO 2 NPs did not show strong toxicity, and 70% of them remained vital. This result was unusual for ultrasmall nanoobjects, generally highly toxic. The actin reorganization, nuclear morphology alteration, and cell membrane elasticity analyses confirmed the trend achieved from the biological assays. The obtained data demonstrate that the increase in cellular softness, i.e., the decrease in Young's modulus, could be associated with the smaller and positive NPs, recording values of about 3 kPa. On the contrary, green NPs triggered a slight decrease of stiffness values (c.a. 6 kPa) compared to the untreated cells (c.a. 8 kPa). As the softer cells were implicated in cancer progression and metastasization, this evidence strongly supported the idea of a link between the cell elasticity and physicochemical properties of NPs that, in turn, influenced the interaction with the cell membrane. Thus, the green SiO 2 NPs compromised cells to a lesser extent than the other SiO 2 NPs types. In this scenario, the elasticity evaluation could be an interesting tool to understand the toxicity of NPs with the aim of predicting some pathological phenomena associated with their exposure., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 Valeria De Matteis et al.)

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by TYMP mutations and thymidine phosphorylase (TP) deficiency. Thymidine and deoxyuridine accumulate impairing the mitochondrial DNA maintenance and integrity. Clinically, patients show severe and progressive gastrointestinal and neurological manifestations. The onset typically occurs in the second decade of life and mean age at death is 37 years. Signs and symptoms of MNGIE are heterogeneous and confirmatory diagnostic tests are not routinely performed by most laboratories, accounting for common misdiagnosis. Factors predictive of progression and appropriate tests for monitoring are still undefined. Several treatment options showed promising results in restoring the biochemical imbalance of MNGIE. The lack of controlled studies with appropriate follow-up accounts for the limited evidence informing diagnostic and therapeutic choices. The International Consensus Conference (ICC) on MNGIE, held in Bologna, Italy, on 30 March to 31 March 2019, aimed at an evidence-based consensus on diagnosis, prognosis, and treatment of MNGIE among experts, patients, caregivers and other stakeholders involved in caring the condition. The conference was conducted according to the National Institute of Health Consensus Conference methodology. A consensus development panel formulated a set of statements and proposed a research agenda. Specifically, the ICC produced recommendations on: (a) diagnostic pathway; (b) prognosis and the main predictors of disease progression; (c) efficacy and safety of treatments; and (f) research priorities on diagnosis, prognosis, and treatment. The Bologna ICC on diagnosis, management and treatment of MNGIE provided evidence-based guidance for clinicians incorporating patients' values and preferences., (© 2020 SSIEM.)

The large degree of clinical heterogeneity within each of the major categories of inherited neuropathies can lead to difficulties in making correct diagnoses based on clinical findings alone. The observation of key clinical findings coupled with electrophysiological findings and understanding of inheritance patterns, should allow the clinician to make judicious use of genetic testing to confirm the clinical diagnosis. An understanding of the clinical and electrophysiological nature of these disorders, as well as an understanding of how to clinically distinguish the inherited conditions from acquired conditions, is imperative to this process., (Copyright © 2013 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.)

We report here a case of primary pulmonary epithelioid hemangioendothelioma diagnosed in a 67-year-old Caucasian man, presenting with exertion dyspnoea, dry cough, and multiple bilateral pulmonary nodules revealed by computed tomography. At the 18F-fluorodeoxyglucose positron emission tomography, these nodules were negative. The histopathological diagnosis was made on a pulmonary wedge resection (performed during video-thoracoscopic surgery).

Background: Some factors(s)/features(s) of maternal insulin-dependent diabetes mellitus are considered common human teratogens. Although the variable association of cardiac, renal, and skeletal anomalies are commonly observed in infants from diabetic mothers, the relationship between VACTERL (i.e., the association of vertebral and cardiac defects, tracheo-esophageal fistula, renal/radial malformations, and other limb anomalies) and maternal diabetes has not been sufficiently emphasized in the literature., Case: We report on a 3-year-old boy presenting with a constellation of blastogenetic malformations strongly suggestive of VACTERL association. His mother was affected by insulin-dependent diabetes since she was 7 years old and pregnancy history disclosed very high glucose and HbA1c levels, especially during the first 2 gestational months., Conclusions: In an attempt to properly counsel the parents, we reviewed the literature and identified four additional patients with VACTERL and first trimester exposure to maternal diabetes mellitus. Although this evidence does not strongly support a causal relationship between these two conditions, additional arguments may substantiate this hypothesis. The pathogenesis of diabetic embryopathy in relation to the VACTERL phenotype is also discussed., ((c) 2008 Wiley-Liss, Inc.)

Background: Pai syndrome (PS) is a rare regional developmental defect of the face, mainly characterized by the variable association of midline cleft of the upper lip (MCL), duplicated maxillary median frenulum, and midline facial cutaneous and midanterior alveolar process polyps. Its entire clinical spectrum is still poorly delineated and the etiology remains unknown., Case: We describe a 1-month-old boy presenting with MCL, left nostril hamartomatous mass, midline pedunculated polyp originating from the columella base, midline alveolar cleft, duplication of the upper median frenulum, unilateral persistent papillary membrane, lipoma of the corpus callosum, and additional minor facial dysmorphism. This patient also presents with agenesis of the corpus callosum, which has never been reported in PS. Literature review was carried out comparing clinical data of the 20 previously published patients with those observed in the present case., Conclusions: The minimum diagnostic criteria for PS has been fixed in one or more hamartomatous nasal polyps plus MCL (with or without cleft alveolus) and/or midanterior alveolar process congenital polyp. Additional common ancillary findings include duplicated median maxillary frenulum, hypertelorism, nasal cleft, midfrontal skin tags, and ocular and CNS structural abnormalities. However, mental retardation is only an occasional feature and seems to be related to coexisting conditions (such as chromosome imbalance). Literature review shows that PS is etiologically heterogeneous, as it may result from chromosome abnormalities and environmental/stochastic events, as well as de novo mutations.

Background: The widespread use of diagnostic breast imaging has yielded an increase in the detection of in situ, microinvasive, and small invasive carcinomas and has provided opportunities to study the earliest stages of breast carcinoma development. The authors of this report analyzed the pathobiologic features of 577 minimal breast carcinomas (MBCs), including in situ carcinomas and invasive carcinomas < or =1 cm, according to the definition given by Hartmann in Cancer (1984;53:681-4)., Methods: Estrogen and progesterone receptors (ER and PR), proliferation index (PI), and p53 and neu expression were studied by immunohistochemical technique and measured by quantitative image analysis in 99 pure in situ carcinomas (ISCp); in 105 mixed invasive/in situ carcinomas, with a separate analysis of in situ (ISCm) and invasive (ICm) components; and in 373 invasive carcinomas < or =1 cm (IC). Follow-up data were available for 164 invasive carcinomas., Results: A progressive increase in the levels of hormone steroid receptors, from the lowest in ISCm to the highest in IC, was observed (ER, P< 0.001; PR, P=0.005). Levels of PI and p53 expression were higher in ISCm than in the other categories (PI, P=0.007; p53, P=0.046). Overexpression of neu was greater in ICm than in IC (P=0.013). Younger women (< or =40 years) with invasive carcinoma had worse biologic profiles, with lower ER (P < 0.001) and higher PI (P=0.021), neu (P=0.008), and p53 (P=0.040). It was demonstrated clinically that PI and neu were the biologic markers with the highest predictive prognostic values in univariate analysis (PI for recurrence, P < 0.015; neu for recurrence and overall survival, P < 0.001 and P < 0.007, respectively) and in multivariate analysis (neu for recurrence and overall survival, P < 0.007 and P < 0.017, respectively)., Conclusions: Biologic phenotypes of MBC can be interpreted as reflecting a dimension of neoplastic progression capacity that is independent of tumor size. This study suggests that biologic markers can be integrated with traditional pathologic indicators for accurate staging of patients.

Recurrent transient neurological deficits have been described in human immunodeficiency virus (HIV)-infected subjects, but their frequency, pathogenesis, and outcome are still unsettled. We describe 10 HIV-infected patients with transient neurological deficits (0.8% of all patients followed in our department during the last decade). All patients were in the advanced stage of immunological disease. None of the clinical or special investigations performed outside of the attacks indicated an underlying structural lesion of the central nervous system. In 80% of these patients, anticardiolipin antibodies were present. The final outcome was unrelated to these transient neurological deficits which, per se, had a benign course. We discuss the possible etiopathogenetic mechanisms of such episodes and suggest that they may be "migrainelike" events, possibly related to transient functional circulatory abnormalities secondary to an immunological antiphospholipid antibody-dependent mechanism.