Staphylococcal Scalded Skin Syndrome in a Ten-Month-Old Male.

A 10-month-old male presented with rhinorrhea and decreased oral intake and was diagnosed with an upper respiratory infection. Two days later, he returned to the clinic due to a lack of improvement and the onset of new symptoms, including facial edema and perioral skin irritation. That evening, he became febrile at 100.4 °F and went to the emergency department at the local children's hospital. No further workup was done and the parents were instructed to continue with the current treatment regimen. Over the next 48 hours, the patient's symptoms worsened with the new onset of bilateral extremity edema and desquamation. The patient was returned to the emergency department. A physical exam was notable for a blanching, desquamating, erythematous rash on the face and creases of the arms, legs, and groin. A positive Nikolsky sign was reported. A clinical diagnosis of staphylococcal scalded skin syndrome (SSSS) was made, and the patient was started on intravenous clindamycin. This case illustrates a severe presentation of SSSS in a pediatric patient, demonstrating the challenges it poses to diagnosis and treatment.

Sleep dysfunction and psychosocial adaptation among women undergoing treatment for non-metastatic breast cancer.

OBJECTIVE: The current study aimed to determine the frequency of sleep disturbances in women prior to adjuvant therapy for breast cancer (BCa), and whether greater sleep dysfunction uniquely predicts poorer functional outcomes. METHOD: We assessed subjective sleep reports and associated them with multiple indicators of psychosocial adaptation in 240 women with Stage I-III BCa before they had begun adjuvant treatment. RESULTS: The average global score on the Pittsburgh Sleep Quality Index (PSQI) was 8.49 (SD=4.16); 54% scoring above the suggested adjusted cutoff for cancer populations of 8.0. Controlling for various medical, sociodemographic, and psychosocial covariates, multiple regression analyses revealed that higher global PSQI score was significantly associated with poorer functional well-being, greater fatigue intensity, greater disruptions in social interactions, and lower positive states of mind. Specifically, a poorer 'sleep efficiency' PSQI component was associated with poorer functional quality of life and the SIP-Social Interactions subscale, while a poorer 'sleep quality' (SQ) PSQI component was associated with all of the outcomes except for the SIP-Recreations and Pastimes subscale. CONCLUSIONS: Results indicate consistent associations between a clinical indicator of sleep dysfunction, particularly those subscales of the PSQI comprising the 'SQ' component, and multiple indicators of psychosocial adaptation among women treated for BCa, independent of anxiety and depression, and suggest the value of comprehensive psychosocial interventions that consider sleep problems.

Cognitive behavioral stress management effects on psychosocial and physiological adaptation in women undergoing treatment for breast cancer.

BACKGROUND: A diagnosis of breast cancer and treatment are psychologically stressful events, particularly over the first year after diagnosis. Women undergo many demanding and anxiety-arousing treatments such as surgery, radiation and chemotherapy. Psychosocial interventions that promote psychosocial adaptation to these challenges may modulate physiological processes (neuroendocrine and immune) that are relevant for health outcomes in breast cancer patients. METHODS: Women with Stages 1-3 breast cancer recruited 4-8 weeks after surgery were randomized to either a 10-week group-based cognitive behavioral stress management (CBSM) intervention or a 1-day psychoeducational control group and completed questionnaires and late afternoon blood samples at study entry and 6 and 12 months after assignment to experimental condition. RESULTS: Of 128 women initially providing psychosocial questionnaire and blood samples at study entry, 97 provided complete data for anxiety measures and cortisol analysis at all time points, and immune assays were run on a subset of 85 of these women. Those assigned to a 10-week group-based CBSM intervention evidenced better psychosocial adaptation (lower reported cancer-specific anxiety and interviewer-rated general anxiety symptoms) and physiological adaptation (lower cortisol, greater Th1 cytokine [interleukin-2 and interferon-gamma] production and IL-2:IL-4 ratio) after their adjuvant treatment compared to those in the control group. Effects on psychosocial adaptation indicators and cortisol appeared to hold across the entire 12-month observation period. Th1 cytokine regulation changes held only over the initial 6-month period. CONCLUSIONS: This intervention may have facilitated a "recovery or maintenance" of Th1 cytokine regulation during or after the adjuvant therapy period. Behavioral interventions that address dysregulated neuroendocrine function could play a clinically significant role in optimizing host immunologic resistance during a vulnerable period.

Childhood-onset spastic paraplegia with NIPAL gene mutation.

Hereditary spastic paraplegia is a heterogeneous group of inherited neurodegenerative disorders in which the predominant clinical feature is gait disturbance owing to spasticity and weakness of the lower limbs. Autosomal dominant hereditary spastic paraplegia is the predominant form of the disorder. To date, 10 autosomal dominant hereditary spastic paraplegia gene loci and genes for 6 of them have been identified. Spastic paraplegia 6, with a typical teenage onset and considered to be one of the more severe forms of the disease, is due to mutations in the gene NIPA1. We report a childhood-onset, aggressive, spastic paraparesis in a North American family with a c.316G>A mutation of the NIPA1 gene, confirming c.316 as a mutational hot spot.

Psychosocial adaptation and cellular immunity in breast cancer patients in the weeks after surgery: An exploratory study.

BACKGROUND: The period just after surgery for breast cancer requires psychosocial adaptation and is associated with elevated distress. Distress states have been associated with decreased cellular immune functioning in this population, which could have negative effects on physical recovery. However, little is known about relations between psychological status [negative and positive mood states and overall quality of life (QOL)] and cellular signaling cytokines that could account for these associations in women undergoing treatment for breast cancer. METHODS: The present study examined associations between psychological adaptation indicators (mood, QOL) and T-helper cell type 1 (Th1) cytokine production from stimulated peripheral mononuclear cells in women who had recently undergone surgery for early-stage breast cancer but had not yet begun adjuvant therapy. These associations were evaluated while controlling for relevant disease/treatment, sociodemographic, and health behavior covariates. RESULTS: Lower anxiety related to greater production of the Th1 cytokine interleukin-2 (IL-2), while greater positive mood (affection) related to greater production of the Th1 cytokines IL-12 and interferon-gamma (IFN-gamma). Better QOL related to greater production of the Th1 cytokine, tumor necrosis factor-alpha (TNF-alpha). CONCLUSION: Individual differences in psychosocial adaptation in women with breast cancer during the period after surgery relate to biological parameters that may be relevant for health and well-being as they move through treatment.

Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population.

BACKGROUND: Malignant hyperthermia (MH) is a life-threatening and frequently fatal disorder triggered by commonly used anesthetics. MH susceptibility is a genetically determined predisposition to the development of MH. Mutations in the ryanodine receptor type 1 (RYR1) gene are the major cause of MH susceptibility. The authors sought to develop a reliable genetic screening strategy based on efficient and relatively inexpensive mutation-detection procedures. METHODS: A cohort (n = 30) of North American MH patients and MH-susceptible individuals was studied. RNA and DNA extracted from muscle tissue or blood lymphocytes were used for analysis. The entire RYR1 coding region was amplified in 57 overlapping fragments and subjected to denaturing high-performance liquid chromatography analysis followed by direct nucleotide sequencing to characterize RYR1 alterations. RESULTS: Nine previously reported and nine unknown RYR1 mutations were identified in 21 of 30 studied patients (70%). Some of the new mutations were located outside of known mutational "hot spots," suggesting that RYR1 contains previously unknown mutation-prone areas requiring analysis. The North American MH/MH-susceptible population is characterized by a high RYR1 allelic heterogeneity. CONCLUSIONS: Denaturing high-performance liquid chromatography analysis of RNA samples extracted from the biopsied skeletal muscle followed by DNA sequencing is a highly efficient methodology for RYR1 mutation detection. This approach allows increasing the rate of mutation detection to 70% and identifying mutations in the entire RYR1 coding region.