388 POCUS to Prevent Delays in Diagnosis of Postpartum Urologic Injury

Huntington disease (HD) is caused by a pathologic cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the HTT gene. Typical adult-onset disease occurs with a minimum of 40 repeats. With more than 60 CAG repeats, patients can have juvenile-onset disease (jHD), with symptom onset by the age of 20 years. We report a case of a boy with extreme early onset, paternally inherited jHD, with symptom onset between 18 and 24 months. He was found to have 250 to 350 CAG repeats, one of the largest repeat expansions published to date. At initial presentation, he had an ataxic gait, truncal titubation, and speech delay. Magnetic resonance imaging showed cerebellar atrophy. Over time, he continued to regress and became nonverbal, wheelchair-bound, gastrostomy-tube dependent, and increasingly rigid. His young age at presentation and the ethical concerns regarding HD testing in minors delayed his diagnosis.

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“It’s Always Been a Second Class Cancer”: An Exploration of the Experiences and Journeys of Bereaved Family Carers of People with Sarcoma

Cancers ◽

10.3390/cancers13112670 ◽

2021 ◽

Vol 13 (11) ◽

pp. 2670

Author(s):

Moira O’Connor ◽

Greta Smith ◽

Ashleigh Pantaleo ◽

Darren Haywood ◽

Rhys Weaver ◽

...

Keyword(s):

Palliative Care ◽

Family Member ◽

The Body ◽

Social Constructionist ◽

Family Carers ◽

Writing Therapy ◽

The Family ◽

Qualitative Descriptive ◽

Bereaved Family ◽

Delays In Diagnosis

Sarcomas are a group of rare and aggressive cancers, which develop in bones and connective tissue throughout the body. Sarcomas account for only 1–2% of all cancers worldwide; however, mortality rates for sarcoma are high with approximately two in four sarcoma patients dying following a diagnosis. Delays in diagnosis, poor management of symptoms, patients’ high symptom loads and high carer burden are all associated with carer distress, which may lead to complications after bereavement. The experience of having a family member referred for palliative care is also distressing for carers, with the realisation that their family member is dying. This study aimed to explore the experiences of bereaved family carers of people diagnosed with sarcoma. A qualitative descriptive design using a social constructionist framework was adopted. Interviews were conducted with sixteen participants, and thematic analysis was used to identify patterns in the data. Four overarching themes emerged: beginning the journey; moving through treatment; transitioning to palliative care; and experiencing bereavement. The narratives were coherent and potent, and people reflected on their journeys. Interventions and supports for bereaved carers could include opportunities for counselling to support reflections, supports for developing a narrative such as writing therapy, and preparation for the death of the family member.

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Reexamination of delays in diagnosis of oral cancer following an intervention program in Cordoba, Argentina

Oral Surgery Oral Medicine Oral Pathology and Oral Radiology ◽

10.1016/j.oooo.2021.11.006 ◽

2021 ◽

Author(s):

R. Morelatto ◽

C. Moretti ◽

N. Bolesina ◽

M. Zapata ◽

M. Liandro ◽

...

Keyword(s):

Oral Cancer ◽

Intervention Program ◽

Delays In Diagnosis

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Successful treatment of gastrointestinal mucormycosis in an adult with acute leukemia: case report and literature review

Current Oncology ◽

10.3747/co.24.3522 ◽

2017 ◽

Vol 24 (1) ◽

pp. 61 ◽

Cited By ~ 4

Author(s):

A. Alghamdi ◽

A. Lutynski ◽

M. Minden ◽

C. Rotstein

Keyword(s):

Case Report ◽

Literature Review ◽

Acute Leukemia ◽

Fungal Infection ◽

Antifungal Therapy ◽

Successful Treatment ◽

Invasive Fungal Infection ◽

Hematologic Malignancies ◽

Considerable Morbidity ◽

Delays In Diagnosis

Mucormycosis has emerged as an important cause of invasive fungal infection in patients with hematologic malignancies. Gastrointestinal mucormycosis is an unusual presentation of this invasive fungal infection, and it causes considerable morbidity and mortality. Such outcomes are due in part to a nonspecific presentation that results in delays in diagnosis and treatment. Successful treatment of gastrointestinal mucormycosis involves surgical debridement and appropriate antifungal therapy.

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Gender differences in delays in diagnosis and treatment of tuberculosis

Health Policy and Planning ◽

10.1093/heapol/czm026 ◽

2007 ◽

Vol 22 (5) ◽

pp. 329-334 ◽

Cited By ~ 55

Author(s):

F. Karim ◽

Md. A. Islam ◽

A. Chowdhury ◽

E. Johansson ◽

V. K Diwan

Keyword(s):

Gender Differences ◽

Diagnosis And Treatment ◽

Delays In Diagnosis

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Delays in Diagnosis of Pediatric Histologically Confirmed Sellar Germ Cell Tumors in China: A Retrospective Risk Factor Analysis

World Neurosurgery ◽

10.1016/j.wneu.2018.10.082 ◽

2019 ◽

Vol 122 ◽

pp. e472-e479 ◽

Cited By ~ 5

Author(s):

Yi Zhang ◽

Kan Deng ◽

Huijuan Zhu ◽

Lin Lu ◽

Hui Pan ◽

...

Keyword(s):

Factor Analysis ◽

Risk Factor ◽

Germ Cell ◽

Germ Cell Tumors ◽

Risk Factor Analysis ◽

Delays In Diagnosis

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The case for open science: rare diseases

JAMIA Open ◽

10.1093/jamiaopen/ooaa030 ◽

2020 ◽

Vol 3 (3) ◽

pp. 472-486

Author(s):

Yaffa R Rubinstein ◽

Peter N Robinson ◽

William A Gahl ◽

Paul Avillach ◽

Gareth Baynam ◽

...

Keyword(s):

Rare Disease ◽

Rare Diseases ◽

Medical Management ◽

Open Science ◽

Patient Data ◽

Diagnosis And Treatment ◽

Community Research ◽

The Core ◽

Delays In Diagnosis

Abstract The premise of Open Science is that research and medical management will progress faster if data and knowledge are openly shared. The value of Open Science is nowhere more important and appreciated than in the rare disease (RD) community. Research into RDs has been limited by insufficient patient data and resources, a paucity of trained disease experts, and lack of therapeutics, leading to long delays in diagnosis and treatment. These issues can be ameliorated by following the principles and practices of sharing that are intrinsic to Open Science. Here, we describe how the RD community has adopted the core pillars of Open Science, adding new initiatives to promote care and research for RD patients and, ultimately, for all of medicine. We also present recommendations that can advance Open Science more globally.

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900 Effects Of COVID-19 Pandemic Restrictions on the 2ww Breast Referrals in A UK Specialist Breast Service

British Journal of Surgery ◽

10.1093/bjs/znab259.213 ◽

2021 ◽

Vol 108 (Supplement_6) ◽

Author(s):

O Tokode ◽

S Rastall

Keyword(s):

Breast Cancer ◽

Waiting Times ◽

Age Groups ◽

Breast Cancer Diagnosis ◽

Hospital Staff ◽

Breast Cancers ◽

Telephone Triage ◽

Telephone Consultation ◽

Mean Waiting Time ◽

Delays In Diagnosis

Abstract Aim Recommendations were issued to the hospital Trusts to configure service delivery to balance cancer care with patient and hospital staff safety during the COVID-19 pandemic. It was felt the service restrictions might lead to delays in diagnosis and treatment of cancer patients. We conducted an audit to compare 2ww breast referrals in our center between May to July of 2019 and 2020. Method We triaged all referrals to face-face consultation or telephone consultation in our center during the pandemic. Patients with suspicious symptoms were offered face-face consultation after the telephone triage. Results Data analysis showed that the referrals fell by 28.3% (N 1569 versus N 1125). The largest reduction was noted in May (34.4% versus 24.2%). Mean waiting time in 2019 was 19.86 (± 7.14) and 11.43 (± 3.48) in 2020. The proportion of patients referred for suspected breast cancers increased across all age groups in 2020 (range +10.4% to 16.2%). Significantly more breast cancers were diagnosed in 2020 (7.1% versus 5.1%). No breast cancer was diagnosed in under 25 patients. 29.1% of the 522 patients telephoned were discharged, and others were seen in the clinic. Conclusions The COVID-19 infection’s management caused a fall in 2ww referrals and shortened waiting times but increased breast cancer diagnosis. Many 2ww referrals during the COVID-19 infection were unnecessary. The telephone consultation reduced waiting times but may have deferred clinic visitation for most patients.

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Commonest modes of presentation of bone and soft tissue tumors at sarcoma services of A Tertiary Care Hospital of KPK.

The Professional Medical Journal ◽

10.29309/tpmj/2020.27.12.4478 ◽

2020 ◽

Vol 27 (12) ◽

pp. 2744-2748

Author(s):

Muhammad Ibrahim ◽

Zeeshan Khan ◽

Muhammad Saeed ◽

Israr Ahmad ◽

Salik Kashif ◽

...

Keyword(s):

Health Care Professionals ◽

Tertiary Care ◽

Sampling Technique ◽

Signs And Symptoms ◽

Soft Tissue Tumors ◽

Care Hospital ◽

Duration Of Symptoms ◽

Mode Of Presentation ◽

Number Of Patients ◽

Delays In Diagnosis

Objectives: The aim of this study is to assess the commonest mode of presentation at our sarcoma unit and the duration from onset of symptoms till presentation. Study Design: Retrospectively study. Setting: Sarcoma Unit of Hayatabad Medical Complex, Peshawar. Period: June 2016 to December 2019. Material & Methods: Two hundred and eighty two patients were included in this study of which 172 patients were male and 110 were female. Sample size was calculated through non-probability consecutive sampling technique. Results: Average age of patients presenting to us was 30.2years (±18.5) ranging from 3years to 83years. Highest numbers of patients fell into the age group category of 11-20years i.e. 94 (33.33%). The average duration of symptoms among our patients was 19.6 months (±26.09) ranging from 0.1months (3 days) to 168 months (14years). Highest number of patients fell into the 7months-12months category i.e. 86 patients (30.5%). The commonest mode of presentation among our patients was painful lump i.e. 128(45.3%) while patients presenting with painless lump were 57(20.2%) and those presenting with only pain were 28(9.9%). Conclusion: The study concluded that there is a need of greater awareness amount general population and health care professionals regarding red flag signs and symptoms in order to avoid the delays in diagnosis which may leads to poor prognosis.

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