Nursing Home Residents Face Severe Functional Limitation or Death After Hospitalization for Pneumonia.

OBJECTIVES: Pneumonia is a common cause of hospitalization for nursing home residents and has increased as a cause for hospitalization during the COVID-19 pandemic. Risks of hospitalization, including significant functional decline, are important considerations when deciding whether to treat a resident in the nursing home or transfer to a hospital. Little is known about postdischarge functional status, relative to baseline, of nursing home residents hospitalized for pneumonia. We sought to determine the risk of severe functional limitation or death for nursing home residents following hospitalization for treatment of pneumonia. DESIGN: Retrospective cohort study. SETTING AND PARTICIPANTS: Participants included Medicare enrollees aged ≥65 years, hospitalized from a nursing home in the United States between 2013 and 2014 for pneumonia. METHODS: Activities of daily living (ADL), patient sociodemographics, and comorbidities were obtained from the Minimum Data Set (MDS), an assessment tool completed for all nursing home residents. MDS assessments from prior to and following hospitalization were compared to assess for functional decline. Following hospital discharge, all patients were evaluated for a composite outcome of severe disability (≥4 ADL limitations) following hospitalization or death prior to completion of a postdischarge MDS. RESULTS: In 2013 and 2014, a total of 241,804 nursing home residents were hospitalized for pneumonia, of whom 89.9% (192,736) experienced the composite outcome of severe disability or death following hospitalization for pneumonia. Although we found that prehospitalization functional and cognitive status were associated with developing the composite outcome, 53% of residents with no prehospitalization ADL limitation, and 82% with no cognitive limitation experienced the outcome. CONCLUSIONS AND IMPLICATIONS: Hospitalization for treatment of pneumonia is associated with significant risk of functional decline and death among nursing home residents, even those with minimal deficits prior to hospitalization. Nursing homes need to prepare for these outcomes in both advance care planning and in rehabilitation efforts.

Provider anticipation and experience of patient reaction when deprescribing guideline discordant inhaled corticosteroids.

INTRODUCTION: Despite evidence of possible patient harm and substantial costs, medication overuse is persistent. Patient reaction is one potential barrier to deprescribing, but little research has assessed this in specific instances of medication discontinuation. We sought to understand Veteran and provider experience when de-implementing guideline-discordant use of inhaled corticosteroids (ICS) in those with mild-to-moderate chronic obstructive pulmonary disease (COPD). METHODS: We conducted a mixed-methods analysis in a provider-randomized quality improvement project testing a proactive electronic-consultation from pulmonologists recommending ICS discontinuation when appropriate. PCPs at two Veterans Health Administration healthcare systems were included. We completed interviews with 16 unexposed providers and 6 intervention-exposed providers. We interviewed 9 patients within 3 months after their PCP proposed ICS discontinuation. We conducted inductive and deductive content analysis of qualitative data to explore an emergent theme of patient reaction. Forty-eight PCPs returned surveys (24 exposed and 24 unexposed, response rate: 35%). RESULTS: The unexposed providers anticipated their patients might resist ICS discontinuation because it seems counterintuitive to stop something that is working, patient's fear of worsening symptoms, or if the prescription was initiated by another provider. Intervention-exposed providers reported similar experiences in post-intervention interviews. Unexposed providers anticipated that patients may accept ICS discontinuation, citing tactical use of patient-centered care strategies. This was echoed by intervention-exposed providers who had successfully discontinued an ICS. Veterans reported acceding to their providers out of trust or deference to their advanced training, even after describing an ICS as a 'security blanket'. Our survey findings supported the subthemes from our interviews. Among providers who proposed discontinuation of an ICS, 76% reported that they were able to discontinue it or switch to another more appropriate medication. CONCLUSIONS: While PCPs anticipated that patients would resist discontinuing an ICS, interviews with patient and intervention-exposed PCPs along with surveys suggest that patients were receptive to this change.

Cost-related delay in filling prescriptions and health care ratings among medicare advantage recipients.

Despite higher health care needs, older adults often have limited and fixed income. Approximately a quarter of them report not filling or delaying prescription medications due to cost (cost-related prescription delay, CRPD). To ascertain the association between CRPD and satisfaction with health care, secondary analysis of the 2012 Consumer Assessment of Healthcare Providers and Systems (CAHPS) Medicare Advantage Survey was performed.Regression models quantified the association between CRPD and rating of personal doctor, specialist, and overall health care. Models were adjusted for demographic, health-related, and socioeconomic characteristics. 274,996 Medicare Advantage enrollees were mailed the CAHPS survey, of which 101,910 (36.8%) returned a survey that had responses to all the items we analyzed. CRPD was assessed by self-report of delay in filling prescriptions due to cost. Health care ratings were on a 0-10 scale. A score ≤ 5 was considered a poor rating of care.In unadjusted models, CRPD more than doubled the relative risk (RR) for poor ratings of personal doctor (RR 2.34), specialist (RR 2.14), and overall health care (RR 2.40). Adjusting for demographics and health status slightly reduced the RRs to 1.9, but adjusting for low-income subsidy and lack of insurance for medications did not make a difference.CRPD is independently associated with poor ratings of medical care, regardless of health, financial or insurance status. Providers might reduce patients' financial stress and improve patient satisfaction by explicitly discussing prescription cost and incorporating patient priorities when recommending treatments.

Promoting Health Equity through De-Implementation Research.

Ensuring equitable access to quality health care historically has focused on gaps in care, where patients fail to receive the high-value care that will benefit them, something termed underuse. But providing high-quality health care sometimes requires reducing low-value care that delivers no benefit or where known harms outweigh expected benefits. These situations represent health care overuse. The process involved in reducing low-value care is known as de-implementation. In this article, we argue that de-implementation is critical for advancing equity for several reasons. First, medical overuse is associated with patient race, ethnicity, and socioeconomic status. In some cases, the result is even double jeopardy, where racial and ethnic minorities are at higher risk of both overuse and underuse. In these cases, more traditional efforts focused exclusively on underuse ignore half of the problem. Second, overuse of preventive care and screening is often greater for more socioeconomically advantaged patients. Within insured populations, this means more socioeconomically disadvantaged patients subsidize overuse. Finally, racial and ethnic minorities may have different experiences of overuse than Whites in the United States. This may make efforts to de-implement overuse particularly fraught. We therefore provide several actions for closing current research gaps, including: adding subgroup analyses in studies of medical overuse; specifying and measuring potential mechanisms related to equity (eg, double jeopardy vs thermostat models of overuse); and testing de-implementation strategies that may mitigate bias.

Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome.

INTRODUCTION: Cold-induced sweating syndrome type 1 (CISS1) is a rare autosomal recessive genodermatosis caused by mutations in the CRLF1 gene, characterized by profuse sweating when the ambient temperature is below 22°C and morphological alterations. CRLF1 mutations also cause Crisponi syndrome (CS), which presents neonatal muscle contractions, morphological disorders and alterations in the autonomous nervous system. CASE REPORT: A 30-year-old man sought treatment for profuse sweating. His medical record included neonatal admission for generalized hypertonicity. Clinical examination revealed morphological alterations. A genetic study was requested, detecting a c.713dupC mutation in homozygosity in the CRLF1 gene. CONCLUSIONS: We report the case of a male with clinical and genetic diagnosis of CISS1 who in childhood presented clinical characteristics of CS. The mutation detected in CRLF1 has not been described in patients with CISS1, but in one with CS. These data seem to support the theory that CS and CISS1 are variants of the same disorder.

Incontinencia pigmenti. Cuatro pacientes con diferentes manifestaciones clínicas / Incontinentia pigmenti. Four patients with different clinical manifestations

La incontinencia pigmenti (IP) es un trastorno neurocutáneo raro, con una frecuencia de 1 en 50.000 recién nacidos, de etiología genética asociada a mutaciones en el gen IKBKG (NEMO) en Xq28, con herencia dominante ligada al X. Tiene una presentación clínica de manifestaciones muy variables detectadas desde la etapa neonatal, con 3 estadios bien definidos en forma secuencial, solapada o salteada, y cada una de estos con un diagnóstico diferencial distinto. Mediante la técnica molecular de PCR+RFLP se analizó el gen IKBKG en cuatro pacientes diferentes con manifestaciones sospechosas de IP además de la biopsia de piel confirmatoria; en todas se detectó la deleción de los exones 4 al 10. Destacamos que ante la sospecha clínica de IP es importante el estudio familiar y el multidisciplinario (complicaciones neurológicas, oculares...), y el necesario asesoramiento genético(AU)

Incontinentia pigmenti (IP) is a rare neurocutaneous disorder with a frequency of 1 in 50,000 newborn, and is associated with mutations in IKBKG gene (NEMO) in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with 3 well established sequential or overlapped states and each with a characteristic differential diagnosis. With PCR+RFLPs, we analyzed the IKBKG gene in 4 patients with different clinical manifestations and characteristic skin biopsy. In all 4 patients the same deletion of exons 4 to 10 was identified. In female patients in whom the dermatological lesions lead to the suspicion of an IP diagnosis, it is important to have the complete, multidisciplinary and molecular analysis of their first level female relatives. This should give us a clear diagnosis, which is the first step to complete genetic counselling(AU)

Use-dependent dendritic regrowth is limited after unilateral controlled cortical impact to the forelimb sensorimotor cortex.

Compensatory neural plasticity occurs in both hemispheres following unilateral cortical damage incurred by seizures, stroke, and focal lesions. Plasticity is thought to play a role in recovery of function, and is important for the utility of rehabilitation strategies. Such effects have not been well described in models of traumatic brain injury (TBI). We examined changes in immunoreactivity for neural structural and plasticity-relevant proteins in the area surrounding a controlled cortical impact (CCI) to the forelimb sensorimotor cortex (FL-SMC), and in the contralateral homotopic cortex over time (3-28 days). CCI resulted in considerable motor deficits in the forelimb contralateral to injury, and increased reliance on the ipsilateral forelimb. The density of dendritic processes, visualized with immunostaining for microtubule-associated protein-2 (MAP-2), were bilaterally decreased at all time points. Synaptophysin (SYN) immunoreactivity increased transiently in the injured hemisphere, but this reflected an atypical labeling pattern, and it was unchanged in the contralateral hemisphere compared to uninjured controls. The lack of compensatory neuronal structural plasticity in the contralateral homotopic cortex, despite behavioral asymmetries, is in contrast to previous findings in stroke models. In the cortex surrounding the injury (but not the contralateral cortex), decreases in dendrites were accompanied by neurodegeneration, as indicated by Fluoro-Jade B (FJB) staining, and increased expression of the growth-inhibitory protein Nogo-A. These studies indicate that, following unilateral CCI, the cortex undergoes neuronal structural degradation in both hemispheres out to 28 days post-injury, which may be indicative of compromised compensatory plasticity. This is likely to be an important consideration in designing therapeutic strategies aimed at enhancing plasticity following TBI.

[Incontinentia pigmenti. Four patients with different clinical manifestations]. / Incontinencia pigmenti. Cuatro pacientes con diferentes manifestaciones clínicas.

Incontinentia pigmenti (IP) is a rare neurocutaneous disorder with a frequency of 1 in 50,000 newborn, and is associated with mutations in IKBKG gene (NEMO) in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with 3 well established sequential or overlapped states and each with a characteristic differential diagnosis. With PCR+RFLPs, we analyzed the IKBKG gene in 4 patients with different clinical manifestations and characteristic skin biopsy. In all 4 patients the same deletion of exons 4 to 10 was identified. In female patients in whom the dermatological lesions lead to the suspicion of an IP diagnosis, it is important to have the complete, multidisciplinary and molecular analysis of their first level female relatives. This should give us a clear diagnosis, which is the first step to complete genetic counselling.

Discondrosteosis de Leri-Weill. Mutación en gen SHOX y expresividad variable / Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutation

Introducción: La primera descripción de una displasia mesomélica con acortamiento de extremidades fue realizada por Leri y Weill en 1929. De entonces se ha conocido el gen causal: SHOX, localizado en Xp22 y en Yp11.3, cuyas mutaciones se identifican entre el 56 y el 100% de los pacientes. Pacientes y métodos: Una de nuestras observaciones es familiar y la otra, aislada. Los diagnósticos en ambos casos fueron clínicos, apoyados por la radiología y el estudio molecular del gen SHOX por MLPA. Conclusiones: Su conocimiento tiene implicaciones terapéuticas dada la favorable evolución con hormona de crecimiento, además de posibles actuaciones quirúrgicas y del asesoramiento genético, dado su carácter hereditario autosómico dominante (AU)

Introduction: A mesomelic dysplasia with shortened limbs was first described by Leri and Weillin 1929. Since then the causal gene has been known as SHOX (short stature homeobox) gene, located in Xp22 and Yp11.3, with mutations being identified in between 56% and 100% of the patients. Patients and methods: One of the observations is familial and the other is an isolated case. The diagnosis in both cases was clinical, supported by radiology and a molecular study of the SHOX gene using multiplex ligation-dependent probe amplification (MLPA). Conclusions: Knowledge of this condition has therapeutic implications, given the favourable progress with growth hormone treatment, as well as possible surgical procedures and genetic counselling, due to its autosomal dominant hereditary character (AU)

[Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutation]. / Discondrosteosis de Leri-Weill. Mutación en gen SHOX y expresividad variable.

INTRODUCTION: A mesomelic dysplasia with shortened limbs was first described by Leri and Weill in 1929. Since then the causal gene has been known as SHOX (short stature homeobox) gene, located in Xp22 and Yp11.3, with mutations being identified in between 56% and 100% of the patients. PATIENTS AND METHODS: One of the observations is familial and the other is an isolated case. The diagnosis in both cases was clinical, supported by radiology and a molecular study of the SHOX gene using multiplex ligation-dependent probe amplification (MLPA). CONCLUSIONS: Knowledge of this condition has therapeutic implications, given the favourable progress with growth hormone treatment, as well as possible surgical procedures and genetic counselling, due to its autosomal dominant hereditary character.

Epidemiología de las fisuras labiales y palatinas durante los años 1990–2004 en Asturias / The epidemiology of cleft lip and palate over the period 1990–2004 in Asturias

Introducción: Las fisuras labiales y palatinas son los defectos congénitos faciales más frecuentes. Objetivo: Conocer la frecuencia de estos defectos en Asturias y realizar una descripción clinicoepidemiológica de sus anomalías asociadas. Metodología: Análisis de los datos del Registro de Defectos Congénitos de Asturias de los años 1990–2004 sobre una población de 103.452 nacidos y comparación con el European Concerted Action on Congenital Anomalies and Twins y otros registros españoles. Resultados: De los 145 casos registrados, el 26,9% eran fisuras labiales, el 28,3% eran fisuras labiopalatinas y el 44,8% eran fisuras palatinas. La prevalencia total de las fisuras labiales o palatinas fue de 14,4 por 10.000 nacidos. Un 18,6% tenía otros defectos asociados, y fueron más frecuentes las anomalías esqueléticas, las cardiovasculares y las del sistema nervioso central. Un 22,1% de las fisuras labiales y palatinas pertenecía a un síndrome o secuencia reconocida. El diagnóstico prenatal fue del 12,4%, principalmente en los casos polimalformados y síndromes. Conclusiones: La prevalencia total de las fisuras labiales y palatinas en Asturias durante este período fue similar a la de otros registros europeos. Debido a la elevada asociación a otras anomalías, debe realizarse una búsqueda minuciosa de ellas, tanto en la ecografía prenatal como en la exploración del recién nacido (AU)

Introduction: Cleft lip and palate (oral clefts) are the most common congenital facial defects. Objective: To assess the prevalence of oral clefts and to describe the associated malformations in a geographically defined population. Method: Data from the Asturias Registry of Congenital Defects were used to investigate the epidemiology of congenital facial clefts over the period 1990–2004 among the 103,452 births in the region. The results were also compared with data from EUROCAT and other Spanish registries. Results: Out of 145 oral clefts recorded, cleft lip was 26.9%, cleft lip and palate 28.3% and cleft palate 44.8%. Total prevalence of oral clefts was 14.4 per 10,000 births. Other associated defects were found in 18.6% of the total cases, with skeletal, cardiovascular and central nervous systems being the most common anomalies. Syndromes or sequences were found in 22% of clefts. A prenatal diagnosis was made in 12.4%. Conclusion: The prevalence of oral clefts in Asturias over this period fell within the range reported for other European registries. An exhaustive prenatal ultrasound and examination of the affected newborns to look for other malformations should be considered in infants with clefts, due to the high association with them (AU)

Hipocondroplasia. Diagnóstico Clínico, radiológico y genético. A propósito de dos observaciones precoces / Hypochondroplasia. Clinical, radiological and genetic diagnosis. Base don two early observations

La hipocondroplasia es una forma de hipocrecimiento por osteocondordisplasi, de posible infradiagnóstico y transmisión autosómica dominante. Forma menor de la condroplasia, con mutación igualmente localizada en el gen FGFR3, su conocimiento y precocidad en la identificación conducen al asesoramiento genético, a disminuir con medidas de higiene física sus posibles complicaciones y a plantear el alargamiento óseo para mejorar la falla final, mientras no tengamos otras soluciones médicas para ella (AU)

Hipochondroplasia is an osteochondrodyplasia characterized by short stature. Clinical and molecularly similar to achondroplasia since the shortening of legs and bowing of the extremities occur in both syndromes The causative mutations of both entities are in the FGFR3 gene. Misdiagnosis is common since clinical manifestations are subtle in hypochondroplasia. The knowledge, identification and genetic assessment are necessary to avoid possible complications and to evaluate orthopedic therapy with leg lengthening combined with correction of bowlegs as an alternative until we have something else to offer to these patients (AU)

Incontinentia pigmenti con inicio clínico atípico / Atypical onset of incontinentia pigmenti

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[The epidemiology of cleft lip and palate over the period 1990-2004 in Asturias]. / Epidemiología de las fisuras labiales y palatinas durante los años 1990-2004 en Asturias.

INTRODUCTION: Cleft lip and palate (oral clefts) are the most common congenital facial defects. OBJECTIVE: To assess the prevalence of oral clefts and to describe the associated malformations in a geographically defined population. METHOD: Data from the Asturias Registry of Congenital Defects were used to investigate the epidemiology of congenital facial clefts over the period 1990-2004 among the 103,452 births in the region. The results were also compared with data from EUROCAT and other Spanish registries. RESULTS: Out of 145 oral clefts recorded, cleft lip was 26.9%, cleft lip and palate 28.3% and cleft palate 44.8%. Total prevalence of oral clefts was 14.4 per 10,000 births. Other associated defects were found in 18.6% of the total cases, with skeletal, cardiovascular and central nervous systems being the the most common anomalies. Syndromes or sequences were found in 22% of clefts. A prenatal diagnosis was made in 12.4%. CONCLUSION: The prevalence of oral clefts in Asturias over this period fell within the range reported for other European registries. An exhaustive prenatal ultrasound and examination of the affected newborns to look for other malformations should be considered in infants with clefts, due to the high association with them.

Las distintas formas del autismo y sus causas genéticas / The different forms of autism and their genetic causes

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Síndrome de Aarskog-Scott. A propósito de un caso con identificación molecular de la mutación génica / Aarskog-Scott syndrome. About a case report with molecular identification of the gene mutation

El síndrome de Aarskog-Scott, o displasia faciodigitogenital, fue descrito en 1970 por Aarskog. Es una entidad con herencia recesiva ligada al cromosoma X, con una amplia heterogeneidad genética, ya que se han descrito casos compatibles con la transmisión autosómica dominante o semidominante ligada al cromosoma X con expresión parcial en mujeres portadoras. Presentamos el caso de un paciente con datos clínicos compatibles con esta entidad, así como el estudio molecular realizado en él y en su madre, en quienes se encuentra una mutación (c.527insC) en el exón 3 del gen FGD1 (Xp11.21). Las mutaciones referidas hasta la fecha son específicas de un caso particular o familiar. Es importante conocer las diferentes mutaciones encontradas en las distintas poblaciones para intentar establecer una relación genotipo-fenotipo (AU)

The Aarskog-Scott syndrome (SAS) or faciodigitogenital dysplasia was described in 1970 by Aarskog. It is an entity with recessive heredity bond to X with broad genetic heterogeneity as compatible cases are with dominant or semi dominant autosomal transmission bond to X with partial expression in female carriers. We describe a patient with clinical data compatible to the entity and the molecular study performed to him and to his mother in which there is a mutation (c.527insC) in exon 3 of FGD1 gene (Xp11.21). The mutations known up to date are specific of a particular or family case. It is important to know the different mutations identified in different populations to try determining a phenotype-genotype relation (AU)