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final diagnosis
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A 28-year-old Japanese woman was referred for 5 mm of nuchal translucency (NT) at 14 weeks of gestation. She and her partner had a 3-year-old healthy daughter, and the couple had no history of abortion. Following counseling, they did not agree to further prenatal examination. At 20 weeks of gestation, fetal growth rest...
8
The postnatal karyotyping of peripheral blood was confirmed to be 46, XX, del(5)(p14); however, the karyotypes of both parents were normal. Therefore, the deletion of 5p was determined to be de novo. The child also showed the phenotypes associated with developmental impairment.
response_raw
A 28-year-old Japanese woman was referred for 5 mm of nuchal translucency (NT) at 14 weeks of gestation. She and her partner had a 3-year-old healthy daughter, and the couple had no history of abortion. Following counseling, they did not agree to further prenatal examination. At 20 weeks of gestation, fetal growth rest...
A 28-year-old Japanese woman was referred for 5 mm of nuchal translucency (NT) at 14 weeks of gestation. She and her partner had a 3-year-old healthy daughter, and the couple had no history of abortion. Following counseling, they did not agree to further prenatal examination. At 20 weeks of gestation, fetal growth rest...
5p deletion syndrome.
null
[-3.51518989e-01 -2.93973088e-02 7.94635266e-02 2.76132226e-01 -7.82559346e-06 2.51380771e-01 6.66146100e-01 2.20114309e-02 2.91503310e-01 5.84423125e-01 -8.00754130e-01 -3.11423630e-01 -9.46774900e-01 7.38266289e-01 -6.90787077e-01 8.07158351e-01 1.37062252e-01 3.33151370e-02 6.75242007e-01 2.99970090...
['Deletion of short arm of chromosome 5', 'Myelodysplastic syndrome with isolated del(5q) chromosomal abnormality', 'Papyraceous fetus, unspecified trimester, fetus 5', 'Megavitamin-B6 syndrome', 'Papyraceous fetus, third trimester, fetus 5']
Deletion of short arm of chromosome 5
Myelodysplastic syndrome with isolated del(5q) chromosomal abnormality
Papyraceous fetus, unspecified trimester, fetus 5
Megavitamin-B6 syndrome
Papyraceous fetus, third trimester, fetus 5
First, I need to review the case presentation carefully to determine the final diagnosis. The patient is a 28-year-old Japanese woman's baby who was found to have several prenatal issues. Key prenatal findings: - 5 mm nuchal translucency at 14 weeks, which is increased and can be associated with chromosomal abnormalit...
Cri-du-chat syndrome
Based on the case presentation, the final diagnosis for the patient is Cri-du-chat syndrome (5p deletion syndrome). This is confirmed by the de novo deletion at 5p14, involving the 5p15.2 region, which is characteristic of this syndrome. Key supporting features include developmental impairment, congenital heart defects...
success
1,828
Not Sure
3
A 68-year-old Japanese man was found to have an extensive type 0–IIc lesion in the upper gastric body extending up to the hypogastric lesser curvature on upper gastrointestinal endoscopy in September 2019. Biopsy revealed a poorly differentiated adenocarcinoma; the patient was referred to our department for surgery. He...
11
Pathological findings of the resected specimen were as follows : a 45 × 40 × 40-mm soft tissue mass extending from the muscularis propria to the serosa at the gastrojejunal anastomosis. The tumor was a white, substantial nodule, and its growth involved the gastrojejunal anastomosis. Although fibroblasts and spindle-sha...
Chunks
A 68-year-old Japanese man was found to have an extensive type 0–IIc lesion in the upper gastric body extending up to the hypogastric lesser curvature on upper gastrointestinal endoscopy in September 2019. Biopsy revealed a poorly differentiated adenocarcinoma; the patient was referred to our department for surgery. He...
A 68-year-old Japanese man was found to have an extensive type 0–IIc lesion in the upper gastric body extending up to the hypogastric lesser curvature on upper gastrointestinal endoscopy in September 2019. Biopsy revealed a poorly differentiated adenocarcinoma; the patient was referred to our department for surgery. He...
Desmoid tumor.
"downloaded_images\\13256_2022_3637_Fig1_HTML.jpg,downloaded_images\\13256_2022_3637_Fig2_HTML.jpg,downloaded_images\\13256_2022_3637_Fig3_HTML.jpg,downloaded_images\\13256_2022_3637_Fig4_HTML.jpg"
[-1.75185546e-01 -6.58810019e-01 8.37372363e-01 1.06460201e-02 -6.76664889e-01 5.35404801e-01 5.48709571e-01 7.07348660e-02 6.49063945e-01 9.88456309e-01 -5.97740531e-01 -9.28917408e-01 -1.06212485e+00 2.18451750e-02 -4.02679503e-01 5.98817170e-01 -1.00449905e-01 3.46759021e-01 2.63157815e-01 1.98278278...
['Malignant carcinoid tumor of the rectum', 'Benign carcinoid tumor of the rectum', 'Malignant carcinoid tumors', 'Malignant neoplasm of rectum', 'Malignant neoplasm of rectosigmoid junction']
Malignant carcinoid tumor of the rectum
Benign carcinoid tumor of the rectum
Malignant carcinoid tumors
Malignant neoplasm of rectum
Malignant neoplasm of rectosigmoid junction
Hmm, the user is asking for a concise medical diagnosis based on a detailed case presentation. This is a complex oncology case involving a patient with recurrent gastric findings after initial cancer surgery. Looking at the key clinical timeline: The patient had stage IA gastric cancer treated with robotic distal gast...
Desmoid fibromatosis
Based on the pathological findings: 1. Spindle-shaped cell proliferation without atypia. 2. Low Ki-67 index (~2%). 3. Immunostaining: Positive for vimentin, desmin, and **β-catenin**. Negative for α-SMA, S-100, CD34, c-kit, STAT6, ER, and PgR. 4. Location: Arising at the gastrojejunal anastomosis site. The immunop...
success
2,104
TRUE
6
A previously healthy 20-year-old southeast Asian–American male presented with 6 weeks of intermittent fevers, nonproductive cough, dry eyes, oral ulcers, rashes, arthritis, and myalgias. The patient’s vitals were temperature of 102°F, heart rate 99 beats per minute, respiratory rate 22 breaths per minute, blood pressur...
11
The patient continued to have fevers, oral ulcers, arthritis, and myalgias. An antinuclear antibody (ANA) titer 1:160 with homogeneous immunofluorescence pattern and weakly positive Sjogren’s syndrome-related antigen A (SSA)/anti-Ro antibody were noted. A highly positive anti-MDA5 was measured by qualitative immunoprec...
Chunks
A previously healthy 20-year-old southeast Asian–American male presented with 6 weeks of intermittent fevers, nonproductive cough, dry eyes, oral ulcers, rashes, arthritis, and myalgias. The patient’s vitals were temperature of 102°F, heart rate 99 beats per minute, respiratory rate 22 breaths per minute, blood pressur...
A previously healthy 20-year-old southeast Asian–American male presented with 6 weeks of intermittent fevers, nonproductive cough, dry eyes, oral ulcers, rashes, arthritis, and myalgias. The patient’s vitals were temperature of 102°F, heart rate 99 beats per minute, respiratory rate 22 breaths per minute, blood pressur...
Anti-MDA5 positive dermatomyositis.
"downloaded_images\\13256_2022_3583_Fig1_HTML.png,downloaded_images\\13256_2022_3583_Fig2_HTML.jpg,downloaded_images\\13256_2022_3583_Fig3_HTML.png"
[-6.80948257e-01 3.98015603e-02 1.19674110e+00 -5.98862052e-01 -7.52075076e-01 6.00054441e-03 6.96637213e-01 -1.06316209e-02 9.85662401e-01 4.31552351e-01 -7.32858658e-01 -8.09147954e-01 -5.35622418e-01 3.99182767e-01 -3.87548596e-01 5.38921535e-01 -2.18109891e-01 4.47798789e-01 4.21967268e-01 -6.05782568...
['Other dermatomyositis', 'Juvenile dermatomyositis', 'Other dermatomyositis with other organ involvement', 'Polymyositis', 'Other dermatomyositis, organ involvement unspecified']
Other dermatomyositis
Juvenile dermatomyositis
Other dermatomyositis with other organ involvement
Polymyositis
Other dermatomyositis, organ involvement unspecified
First, I need to review the case presentation and identify the key symptoms, signs, and test results to arrive at a diagnosis. The patient is a 20-year-old southeast Asian–American male with 6 weeks of symptoms: intermittent fevers, nonproductive cough, dry eyes, oral ulcers, rashes, arthritis, and myalgias. Vitals sh...
Anti-MDA5 antibody-positive dermatomyositis
Based on the case presentation, the patient's symptoms (prolonged fevers, cough, dry eyes, oral ulcers, rashes, arthritis, and myalgias), laboratory findings (elevated ferritin, lymphopenia, positive ANA, weakly positive anti-Ro, and highly positive anti-MDA5 antibody), and imaging results (ground-glass opacities and n...
success
2,265
FALSE
8
A 44-year-old female living with HIV and on ART for the last 14 years, with a CD4 count of 338 cells/µL and viral load < 20 copies/mL presented to the hospital with a history of being unwell for a week. She had been put on abacavir, lamivudine, and dolutegravir 3 weeks before, as a routine switch from a TDF-based regim...
16
She made tremendous improvement overall, although she has persistent headaches 24 months after the first episode. The most recent CD4 count is 512 cells/µL and viral load is 22 copies/mL. The timeline of events is summarized in Fig. 1.
response_raw
A 44-year-old female living with HIV and on ART for the last 14 years, with a CD4 count of 338 cells/µL and viral load < 20 copies/mL presented to the hospital with a history of being unwell for a week. She had been put on abacavir, lamivudine, and dolutegravir 3 weeks before, as a routine switch from a TDF-based regim...
A 44-year-old female living with HIV and on ART for the last 14 years, with a CD4 count of 338 cells/µL and viral load < 20 copies/mL presented to the hospital with a history of being unwell for a week. She had been put on abacavir, lamivudine, and dolutegravir 3 weeks before, as a routine switch from a TDF-based regim...
Abacavir hypersensitivity reaction.
"downloaded_images\\13256_2022_3647_Fig1_HTML.png"
[-5.41967332e-01 -6.45025969e-01 2.31159359e-01 8.53837281e-02 -1.22623399e-01 -2.11542115e-01 1.18059613e-01 5.36935665e-02 7.18390167e-01 3.70622814e-01 -5.26363015e-01 -1.12950489e-01 -4.16510969e-01 3.29177380e-01 -7.34684706e-01 1.17806280e+00 2.02268492e-02 -4.47293103e-01 1.22499749e-01 -3.88647377...
['Hypersensitivity angiitis', 'Anaphylactic reaction due to vaccination', 'Upper respiratory tract hypersensitivity reaction, site unspecified', 'Other serum reaction due to vaccination', 'Anaphylactic reaction due to vaccination, subsequent encounter']
Hypersensitivity angiitis
Anaphylactic reaction due to vaccination
Upper respiratory tract hypersensitivity reaction, site unspecified
Other serum reaction due to vaccination
Anaphylactic reaction due to vaccination, subsequent encounter
Alright, let's tackle this case step by step. The patient is a 44-year-old woman with HIV on ART. She switched to abacavir/lamivudine/dolutegravir (Triumeq) three weeks before symptoms started. Her initial symptoms were dry cough, sore throat, chest discomfort, myalgia, vomiting, fever, chills, anorexia, nausea, and he...
Abacavir Hypersensitivity Syndrome
Based on the case presentation, the key diagnosis is **Abacavir Hypersensitivity Syndrome**. This is supported by: 1. Symptoms appearing 3 weeks after initiating abacavir-containing ART (Triumeq) 2. Recurrent severe reactions (fever, rash, GI symptoms, respiratory distress, hypotension, AKI, liver injury) following rec...
success
1,838
TRUE
11
A 72-year-old Japanese man visited our department primarily for indolent right scrotum enlargement in September 2020. The patient had undergone appendectomy and left inguinal hernia surgery 50 and 10 years ago, respectively. The patient has been receiving oral treatment for benign prostatic hyperplasia, diabetes, and h...
12
The tumor did not extend into the tunical albuginea, and vascular infiltration was found in one part of the tumor. The spermatic cord stumps were negative. Thus, the tumor was diagnosed as pT1, N1, M0, S0, and TNM stage IIA.
Chunks
A 72-year-old Japanese man visited our department primarily for indolent right scrotum enlargement in September 2020. The patient had undergone appendectomy and left inguinal hernia surgery 50 and 10 years ago, respectively. The patient has been receiving oral treatment for benign prostatic hyperplasia, diabetes, and h...
A 72-year-old Japanese man visited our department primarily for indolent right scrotum enlargement in September 2020. The patient had undergone appendectomy and left inguinal hernia surgery 50 and 10 years ago, respectively. The patient has been receiving oral treatment for benign prostatic hyperplasia, diabetes, and h...
Malignant unclassified sex cord-stromal tumor (SCST).
"downloaded_images\\13256_2022_3619_Fig1_HTML.jpg,downloaded_images\\13256_2022_3619_Fig2_HTML.jpg,downloaded_images\\13256_2022_3619_Fig3_HTML.jpg"
[ 2.34584451e-01 -3.70850086e-01 3.39214236e-01 3.60107332e-01 -1.07397473e+00 7.04586208e-01 -5.98111264e-02 5.14285564e-01 2.60586917e-01 1.05429029e+00 -3.66365820e-01 -9.99271393e-01 -6.38882816e-01 -3.79726171e-01 -9.68604743e-01 1.30209661e+00 -1.34003758e-01 7.70181775e-01 2.44881824e-01 -2.04215750...
['Gastrointestinal stromal tumor', 'Malignant neoplasm of scrotum', 'Gastrointestinal stromal tumor, unspecified site', 'Malignant neoplasm of spermatic cord', 'Malignant neoplasm of unspecified spermatic cord']
Gastrointestinal stromal tumor
Malignant neoplasm of scrotum
Gastrointestinal stromal tumor, unspecified site
Malignant neoplasm of spermatic cord
Malignant neoplasm of unspecified spermatic cord
Hmm, the user has shared a detailed medical case presentation about a 72-year-old Japanese man with a right testicular tumor and is asking for the final diagnosis. I need to carefully analyze the clinical and pathological findings to determine the correct diagnosis. Looking at the case details: The patient presented w...
Leydig cell tumor of the testis
Based on the clinical, histopathological, and immunohistochemical findings: 1. **Histopathology**: Poorly differentiated solid tumor with large nuclei, distinct nucleoli, nest-like growth, necrosis, and vascular invasion. 2. **Immunohistochemistry**: - **Positive**: Diffuse SF-1 (steroidogenic marker), Ki-67 (proli...
success
1,563
FALSE
12
"A 74-year-old Japanese man presented to the previous hospital complaining of right hip pain. There (...TRUNCATED)
9
"Fig. 5 a X-rays at first visit showed no obvious abnormalities. b X-ray at 4 months after the first(...TRUNCATED)
Chunks
"A 74-year-old Japanese man presented to the previous hospital complaining of right hip pain. There (...TRUNCATED)
"A 74-year-old Japanese man presented to the previous hospital complaining of right hip pain. There (...TRUNCATED)
Incomplete fracture (IF) of the right supra-acetabulum.
"downloaded_images\\13256_2022_3656_Fig1_HTML.jpg,downloaded_images\\13256_2022_3656_Fig2_HTML.jpg,d(...TRUNCATED)
"[ 4.07766342e-01 -3.24224681e-01 4.83294994e-01 8.51817191e-01\n -3.00937474e-01 5.90633392e-01 (...TRUNCATED)
"['Unspecified fracture of right acetabulum', 'Unspecified fracture of right acetabulum, subsequent (...TRUNCATED)
Unspecified fracture of right acetabulum
Unspecified fracture of right acetabulum, subsequent encounter for fracture with nonunion
Unspecified fracture of left acetabulum
Unspecified fracture of acetabulum
Fracture of acetabulum
"First, I need to understand the case presentation. A 74-year-old man has right hip pain without tra(...TRUNCATED)
Insufficiency fracture of the right supra-acetabulum
"Based on the case presentation, the final diagnosis is an insufficiency fracture of the right supra(...TRUNCATED)
success
1,614
TRUE
14
"A 29-year-old white male was transported to the emergency department by ambulance after experiencin(...TRUNCATED)
18
"Despite the negative hematological testing, the patient remains on lifelong Coumadin in the event o(...TRUNCATED)
Chunks
"A 29-year-old white male was transported to the emergency department by ambulance after experiencin(...TRUNCATED)
"A 29-year-old white male was transported to the emergency department by ambulance after experiencin(...TRUNCATED)
May-Thurner syndrome (MTS).
null
"[ 9.60101411e-02 -5.82406104e-01 7.41033673e-01 -2.41169333e-03\n -5.73690116e-01 4.13768470e-01 (...TRUNCATED)
"[\"Melkersson's syndrome\", 'Prader-Willi syndrome', \"Dressler's syndrome\", 'Lesch-Nyhan syndrome(...TRUNCATED)
Melkersson's syndrome
Prader-Willi syndrome
Dressler's syndrome
Lesch-Nyhan syndrome
Bartter's syndrome
"First, I need to review the case presentation carefully to determine the final diagnosis. The patie(...TRUNCATED)
May-Thurner Syndrome
"Based on the case presentation, the patient experienced recurrent thrombotic events, including pulm(...TRUNCATED)
success
2,504
Not Sure
17
"A 9-year-old African-American male with a history of steroid-dependent NS presented to the nephrolo(...TRUNCATED)
9
"The child was transferred to the inpatient ward where he completed a 2-week course of ceftriaxone w(...TRUNCATED)
Chunks
"A 9-year-old African-American male with a history of steroid-dependent NS presented to the nephrolo(...TRUNCATED)
"A 9-year-old African-American male with a history of steroid-dependent NS presented to the nephrolo(...TRUNCATED)
Meningitis due to Streptococcus pneumoniae.
"downloaded_images\\13256_2022_3639_Fig1_HTML.jpg,downloaded_images\\13256_2022_3639_Fig2_HTML.jpg,d(...TRUNCATED)
"[ 2.93811172e-01 -2.23947495e-01 5.85565269e-01 7.92178094e-01\n -2.61506855e-01 -4.22096670e-01 (...TRUNCATED)
"['Streptococcal meningitis', 'Pneumococcal meningitis', 'Pneumonia due to Streptococcus pneumoniae'(...TRUNCATED)
Streptococcal meningitis
Pneumococcal meningitis
Pneumonia due to Streptococcus pneumoniae
Staphylococcal meningitis
Meningococcal meningitis
"First, the case presentation is about a 9-year-old boy with a history of steroid-dependent nephroti(...TRUNCATED)
Streptococcus pneumoniae meningitis
"Based on the case presentation, the patient presented with neck pain and stiffness, which progresse(...TRUNCATED)
success
1,858
FALSE
19
"The patient gave her written consent to the anonymous description and publication of her case repor(...TRUNCATED)
11
"To prevent hypofibrinolytic bleeding, tranexamic acid was infused intraoperatively, starting with a(...TRUNCATED)
Chunks
"The patient gave her written consent to the anonymous description and publication of her case repor(...TRUNCATED)
"The patient gave her written consent to the anonymous description and publication of her case repor(...TRUNCATED)
Progressive impression fracture of the 11th thoracic vertebral body.
"downloaded_images\\13256_2022_3640_Fig1_HTML.jpg,downloaded_images\\13256_2022_3640_Fig2_HTML.jpg,d(...TRUNCATED)
"[ 4.31140453e-01 -6.88534737e-01 9.87664521e-01 7.58655429e-01\n 3.10638025e-02 5.47108054e-01 (...TRUNCATED)
"['Unspecified fracture of T9-T10 vertebra', 'Unspecified fracture of second thoracic vertebra', 'Fr(...TRUNCATED)
Unspecified fracture of T9-T10 vertebra
Unspecified fracture of second thoracic vertebra
Fracture of unspecified thoracic vertebra
Unspecified fracture of third thoracic vertebra
Fracture of thoracic vertebra
"Hmm, the user has shared a detailed medical case report and wants me to provide a concise final dia(...TRUNCATED)
"Extension of preexisting spinal fusion from L4 to S2 for severe pain (surgical indication), managed(...TRUNCATED)
"Based on the case presentation, the patient underwent surgery for a known spinal condition requirin(...TRUNCATED)
success
1,851
FALSE
20
"An 81-year-old Japanese woman was referred to our hospital for endoscopic treatment under the diagn(...TRUNCATED)
5
"Immunohistochemistry was positive for synaptophysin and CD56, and chromogranin partially, confirmin(...TRUNCATED)
response_raw
"An 81-year-old Japanese woman was referred to our hospital for endoscopic treatment under the diagn(...TRUNCATED)
"An 81-year-old Japanese woman was referred to our hospital for endoscopic treatment under the diagn(...TRUNCATED)
early gastric MiNEN.
"downloaded_images\\13256_2022_3643_Fig1_HTML.jpg"
"[-6.88445494e-02 -6.51316941e-02 4.76392150e-01 -2.82822102e-01\n 2.01630332e-02 -2.30743825e-01 (...TRUNCATED)
"['Gastric ulcer', 'Gastritis, unspecified', 'Laceration of stomach, initial encounter', 'Early sati(...TRUNCATED)
Gastric ulcer
Gastritis, unspecified
Laceration of stomach, initial encounter
Early satiety
Foreign body in stomach, initial encounter
"Hmm, the user has presented a detailed medical case and wants a concise final diagnosis. This is an(...TRUNCATED)
"Combined neuroendocrine-non-neuroendocrine neoplasm (MiNEN) of the stomach, composed of tubular ade(...TRUNCATED)
"Based on the histological findings described in the case presentation, the tumor consisted of two d(...TRUNCATED)
success
894
TRUE
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